HPDL (4-hydroxyphenylpyruvate dioxygenase like)

Gene: HPDL (4-hydroxyphenylpyruvate dioxygenase like) Homo sapiens

Analyze

Symbol:

HPDL

Name:

4-hydroxyphenylpyruvate dioxygenase like

RGD ID:

1606204

HGNC Page

HGNC:28242

Description:

Predicted to enable 4-hydroxyphenylpyruvate dioxygenase activity and metal ion binding activity. Predicted to be involved in aromatic amino acid metabolic process. Located in mitochondrion. Implicated in hereditary spastic paraplegia 83.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

4-HPPD-L; 4-hydroxyphenylpyruvate dioxygenase-like; 4-hydroxyphenylpyruvate dioxygenase-like protein; GLOXD1; glyoxalase domain containing 1; glyoxalase domain-containing protein 1; MGC15668; NEDSWMA; RP4-534D1.1; SPG83

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	45,326,895 - 45,328,710 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	45,326,895 - 45,328,710 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	45,792,567 - 45,794,382 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	45,565,132 - 45,566,934 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	44,075,922 - 44,077,724 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	43,904,200 - 43,906,002 (+)	NCBI		HuRef
CHM1_1	1	45,909,348 - 45,911,150 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	45,198,451 - 45,200,266 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease dominant intermediate C (IAGP)

developmental and epileptic encephalopathy (IAGP)

early infantile epileptic encephalopathy (IAGP)

familial adenomatous polyposis 2 (IAGP)

genetic disease (IAGP)

hereditary spastic paraplegia 83 (IAGP)

neurodegenerative disease (ISS)

Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (EXP,IAGP)

paraplegia (IAGP)

spastic ataxia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

17beta-estradiol (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

6-propyl-2-thiouracil (ISO)

aconitine (ISO)

acrylamide (ISO)

all-trans-retinoic acid (EXP,ISO)

amitrole (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

atrazine (EXP,ISO)

belinostat (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

bromobenzene (ISO)

carbon nanotube (ISO)

chromium(6+) (ISO)

Cuprizon (ISO)

cyclosporin A (ISO)

cypermethrin (ISO)

dexamethasone (EXP)

dioxygen (EXP)

diquat (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

ethyl methanesulfonate (EXP)

formaldehyde (EXP)

furan (ISO)

indometacin (EXP)

iron dichloride (EXP)

ketamine (ISO)

methimazole (ISO)

methyl methanesulfonate (EXP)

ozone (ISO)

panobinostat (EXP)

paracetamol (ISO)

paraquat (ISO)

perfluorooctanoic acid (EXP)

pirinixic acid (EXP,ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

vorinostat (EXP)

zearalenone (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aromatic amino acid metabolic process (IEA)

Cellular Component

mitochondrion (IDA,IEA)

Molecular Function

4-hydroxyphenylpyruvate dioxygenase activity (IEA)

dioxygenase activity (IEA)

metal ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cerebral white matter morphology (IAGP)

Anteverted nares (IAGP)

Autosomal recessive inheritance (IAGP)

Axial dystonia (IAGP)

Babinski sign (IAGP)

Childhood onset (IAGP)

Congenital onset (IAGP)

Decreased motor nerve conduction velocity (IAGP)

Decreased sensory nerve conduction velocity (IAGP)

Developmental regression (IAGP)

Drooling (IAGP)

Dysphagia (IAGP)

Elevated brain lactate level by MRS (IAGP)

Esodeviation (IAGP)

Esotropia (IAGP)

Exodeviation (IAGP)

External ophthalmoplegia (IAGP)

Failure to thrive in infancy (IAGP)

Flexion contracture (IAGP)

Gait ataxia (IAGP)

Growth delay (IAGP)

High palate (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Increased circulating lactate concentration (IAGP)

Increased CSF lactate (IAGP)

Increased variability in muscle fiber diameter (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Juvenile onset (IAGP)

Long eyelashes (IAGP)

Long philtrum (IAGP)

Lower limb hyperreflexia (IAGP)

Microcephaly (IAGP)

Motor delay (IAGP)

Muscle spasm (IAGP)

Myalgia (IAGP)

Neonatal onset (IAGP)

Nystagmus (IAGP)

Paresthesia (IAGP)

Progressive (IAGP)

Respiratory failure requiring assisted ventilation (IAGP)

Retrognathia (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Short neck (IAGP)

Spastic ataxia (IAGP)

Spastic paraplegia (IAGP)

Unsteady gait (IAGP)

Urinary urgency (IAGP)

Visual impairment (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:15489334	PMID:16710414	PMID:21873635	PMID:22939629	PMID:28190767	PMID:29117863	PMID:32707086	PMID:33188300	PMID:33970200	PMID:34515336	PMID:35985664

Genomics

Comparative Map Data

HPDL
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	45,326,895 - 45,328,710 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	45,326,895 - 45,328,710 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	45,792,567 - 45,794,382 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	45,565,132 - 45,566,934 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	44,075,922 - 44,077,724 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	43,904,200 - 43,906,002 (+)	NCBI		HuRef
CHM1_1	1	45,909,348 - 45,911,150 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	45,198,451 - 45,200,266 (+)	NCBI		T2T-CHM13v2.0

Hpdl
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	116,677,104 - 116,678,705 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	116,677,101 - 116,678,904 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	116,819,907 - 116,821,508 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	116,819,904 - 116,821,707 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	116,492,512 - 116,494,113 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	116,317,839 - 116,319,440 (-)	NCBI		MGSCv36	mm8
Celera	4	115,559,324 - 115,560,925 (-)	NCBI		Celera
Cytogenetic Map	4	D1	NCBI
cM Map	4	53.35	NCBI

Hpdl
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	135,523,258 - 135,524,864 (-)	NCBI		GRCr8
mRatBN7.2	5	130,286,627 - 130,288,233 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	130,286,631 - 130,288,233 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	132,917,327 - 132,918,933 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	134,671,930 - 134,673,536 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	134,694,331 - 134,695,937 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	135,675,826 - 135,677,432 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	135,675,832 - 135,677,432 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	139,471,945 - 139,473,551 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	137,116,378 - 137,117,984 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	137,121,605 - 137,123,210 (-)	NCBI
Celera	5	128,813,296 - 128,814,902 (-)	NCBI		Celera
Cytogenetic Map	5	q35	NCBI

Hpdl
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955464	12,936,996 - 12,940,050 (-)	NCBI	ChiLan1.0	ChiLan1.0

HPDL
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	181,480,018 - 181,481,687 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	180,621,287 - 180,623,136 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	44,629,560 - 44,631,394 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	45,988,044 - 45,989,883 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	45,988,494 - 45,989,609 (+)	Ensembl	panpan1.1		panPan2

HPDL
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	15,019,273 - 15,028,932 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	15,027,472 - 15,028,671 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	15,140,618 - 15,150,283 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	15,174,596 - 15,184,265 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	15,182,797 - 15,183,996 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	14,971,693 - 14,981,350 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	15,039,578 - 15,049,242 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	15,111,689 - 15,121,352 (-)	NCBI		UU_Cfam_GSD_1.0

Hpdl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	60,657,068 - 60,658,485 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	26,481,883 - 26,482,998 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	26,481,300 - 26,483,143 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HPDL
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	166,012,601 - 166,014,323 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	166,012,590 - 166,015,051 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	153,420,659 - 153,423,107 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HPDL
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	87,463,202 - 87,465,467 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	87,463,636 - 87,464,748 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	29,496,866 - 29,498,911 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hpdl
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624906	1,236,450 - 1,237,565 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624906	1,235,307 - 1,238,381 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HPDL
48 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3	copy number gain	See cases [RCV000051803]	Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1	pathogenic
GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	copy number gain	See cases [RCV000134906]	Chr1:44962358..45585262 [GRCh38] Chr1:45428030..46050934 [GRCh37] Chr1:45200617..45823521 [NCBI36] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.256del (p.Ala86fs)	deletion	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001568410]\|Spastic paraplegia [RCV001849530]	Chr1:45327403 [GRCh38] Chr1:45793075 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1	copy number loss	See cases [RCV000448358]	Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	copy number gain	See cases [RCV000510158]	Chr1:45715667..46501705 [GRCh37] Chr1:1p34.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_032756.4(HPDL):c.214C>A (p.Arg72Ser)	single nucleotide variant	Inborn genetic diseases [RCV003281653]	Chr1:45327362 [GRCh38] Chr1:45793034 [GRCh37] Chr1:1p34.1	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
NM_032756.4(HPDL):c.527T>C (p.Leu176Pro)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001543619]	Chr1:45327675 [GRCh38] Chr1:45793347 [GRCh37] Chr1:1p34.1	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001597558]\|Spastic paraplegia [RCV001849532]	Chr1:45327380 [GRCh38] Chr1:45793052 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	copy number loss	not provided [RCV001005083]	Chr1:45386263..45982314 [GRCh37] Chr1:1p34.1	uncertain significance
NC_000001.11:g.(?_44822405)_(45340264_?)dup	duplication	Familial adenomatous polyposis 2 [RCV001031167]	Chr1:45288077..45805936 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.*79G>A	single nucleotide variant	not provided [RCV001611600]	Chr1:45328343 [GRCh38] Chr1:45794015 [GRCh37] Chr1:1p34.1	benign
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001568411]\|Spastic paraplegia [RCV001849531]	Chr1:45327945 [GRCh38] Chr1:45793617 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
NM_032756.4(HPDL):c.954dup (p.Gly319fs)	duplication	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001597559]	Chr1:45328099..45328100 [GRCh38] Chr1:45793771..45793772 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)	duplication	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001261976]\|Spastic paraplegia [RCV001849496]	Chr1:45327489..45327490 [GRCh38] Chr1:45793161..45793162 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.342_343insTGCC (p.Ala115fs)	insertion	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001258381]	Chr1:45327490..45327491 [GRCh38] Chr1:45793162..45793163 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	single nucleotide variant	Spastic ataxia [RCV001819964]\|Spastic paraplegia 83, autosomal recessive [RCV001258386]\|Spastic paraplegia [RCV001849493]\|not provided [RCV001268812]	Chr1:45327297 [GRCh38] Chr1:45792969 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001258384]\|Spastic paraplegia [RCV001849492]\|not provided [RCV002069372]	Chr1:45327651 [GRCh38] Chr1:45793323 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
NM_032756.4(HPDL):c.753C>A (p.His251Gln)	single nucleotide variant	not provided [RCV001267925]	Chr1:45327901 [GRCh38] Chr1:45793573 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)	single nucleotide variant	Inborn genetic diseases [RCV002541634]\|not provided [RCV001267924]	Chr1:45327617 [GRCh38] Chr1:45793289 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032756.4(HPDL):c.779G>A (p.Gly260Glu)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001258382]	Chr1:45327927 [GRCh38] Chr1:45793599 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001258383]	Chr1:45328172 [GRCh38] Chr1:45793844 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.537G>C (p.Trp179Cys)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001258385]	Chr1:45327685 [GRCh38] Chr1:45793357 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001261975]\|Spastic paraplegia [RCV001849495]	Chr1:45327936 [GRCh38] Chr1:45793608 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.736C>T (p.Gln246Ter)	single nucleotide variant	not provided [RCV001787294]	Chr1:45327884 [GRCh38] Chr1:45793556 [GRCh37] Chr1:1p34.1	likely pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
NM_032756.4(HPDL):c.353dup (p.Tyr118Ter)	duplication	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001597557]	Chr1:45327500..45327501 [GRCh38] Chr1:45793172..45793173 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)	single nucleotide variant	Inborn genetic diseases [RCV002579506]\|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001597560]	Chr1:45327242 [GRCh38] Chr1:45792914 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
NM_032756.4(HPDL):c.599del (p.Gly200fs)	deletion	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001789610]	Chr1:45327745 [GRCh38] Chr1:45793417 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV001795669]\|Spastic paraplegia [RCV001849574]	Chr1:45328161 [GRCh38] Chr1:45793833 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.800dup (p.Glu268fs)	duplication	not provided [RCV001787295]	Chr1:45327947..45327948 [GRCh38] Chr1:45793619..45793620 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.529_530del (p.Leu177fs)	deletion	Spastic paraplegia [RCV001849568]\|not provided [RCV001777113]	Chr1:45327675..45327676 [GRCh38] Chr1:45793347..45793348 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)	single nucleotide variant	Spastic paraplegia [RCV001849567]\|not provided [RCV001776795]	Chr1:45327717 [GRCh38] Chr1:45793389 [GRCh37] Chr1:1p34.1	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NC_000001.10:g.(?_45288087)_(45809328_?)dup	duplication	Familial adenomatous polyposis 2 [RCV001877385]	Chr1:45288087..45809328 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)	single nucleotide variant	Inborn genetic diseases [RCV002543438]\|Spastic paraplegia [RCV001849852]	Chr1:45328007 [GRCh38] Chr1:45793679 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.995del (p.Thr332fs)	deletion	Spastic paraplegia [RCV001849860]	Chr1:45328143 [GRCh38] Chr1:45793815 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly)	single nucleotide variant	Spastic paraplegia [RCV001849864]	Chr1:45327840 [GRCh38] Chr1:45793512 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro)	single nucleotide variant	Spastic paraplegia [RCV001849856]	Chr1:45327641 [GRCh38] Chr1:45793313 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro)	single nucleotide variant	Spastic paraplegia [RCV001849861]	Chr1:45327798 [GRCh38] Chr1:45793470 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter)	single nucleotide variant	Spastic paraplegia [RCV001849855]	Chr1:45327175 [GRCh38] Chr1:45792847 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.816_817del (p.Val273fs)	deletion	Spastic paraplegia [RCV001849858]\|not provided [RCV003132545]	Chr1:45327961..45327962 [GRCh38] Chr1:45793633..45793634 [GRCh37] Chr1:1p34.1	likely pathogenic\|uncertain significance
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	single nucleotide variant	Inborn genetic diseases [RCV002543439]\|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV003458775]\|Spastic paraplegia [RCV001849857]	Chr1:45327151 [GRCh38] Chr1:45792823 [GRCh37] Chr1:1p34.1	pathogenic\|likely pathogenic
NM_032756.4(HPDL):c.523_529del (p.Thr175fs)	deletion	Spastic paraplegia [RCV001849859]	Chr1:45327671..45327677 [GRCh38] Chr1:45793343..45793349 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)	single nucleotide variant	Spastic paraplegia [RCV001849863]	Chr1:45327983 [GRCh38] Chr1:45793655 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly)	single nucleotide variant	Spastic paraplegia [RCV001849866]	Chr1:45328220 [GRCh38] Chr1:45793892 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro)	single nucleotide variant	Spastic paraplegia [RCV001849867]	Chr1:45327258 [GRCh38] Chr1:45792930 [GRCh37] Chr1:1p34.1	likely pathogenic
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	copy number loss	not specified [RCV002053281]	Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3	likely pathogenic
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr)	single nucleotide variant	Spastic paraplegia [RCV001849850]	Chr1:45327666 [GRCh38] Chr1:45793338 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)	indel	Spastic paraplegia [RCV001849854]	Chr1:45327917..45327919 [GRCh38] Chr1:45793589..45793591 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.679del (p.Thr227fs)	deletion	Spastic paraplegia [RCV001849862]	Chr1:45327827 [GRCh38] Chr1:45793499 [GRCh37] Chr1:1p34.1	likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg)	single nucleotide variant	Spastic paraplegia [RCV001849849]	Chr1:45327566 [GRCh38] Chr1:45793238 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg)	single nucleotide variant	Spastic paraplegia [RCV001849851]	Chr1:45327936 [GRCh38] Chr1:45793608 [GRCh37] Chr1:1p34.1	likely pathogenic
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser)	single nucleotide variant	Spastic paraplegia [RCV001849853]	Chr1:45327995 [GRCh38] Chr1:45793667 [GRCh37] Chr1:1p34.1	likely pathogenic
NC_000001.10:g.(?_45793451)_(45798111_?)del	deletion	Familial adenomatous polyposis 2 [RCV001962996]	Chr1:45793451..45798111 [GRCh37] Chr1:1p34.1	pathogenic
NC_000001.10:g.(?_44257753)_(46663493_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV003109481]	Chr1:44257753..46663493 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)	single nucleotide variant	HPDL-related condition [RCV003916406]\|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV002244250]	Chr1:45327282 [GRCh38] Chr1:45792954 [GRCh37] Chr1:1p34.1	likely benign\|uncertain significance
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	copy number gain	See cases [RCV002246181]	Chr1:44346001..46332161 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.1017G>A (p.Glu339=)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV003348825]\|Spastic paraplegia 83, autosomal recessive [RCV003348826]\|not provided [RCV002262230]	Chr1:45328165 [GRCh38] Chr1:45793837 [GRCh37] Chr1:1p34.1	likely benign
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV002465023]	Chr1:45327267 [GRCh38] Chr1:45792939 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.147C>A (p.Ser49Arg)	single nucleotide variant	Inborn genetic diseases [RCV003096072]\|Spastic ataxia [RCV002509823]	Chr1:45327295 [GRCh38] Chr1:45792967 [GRCh37] Chr1:1p34.1	pathogenic\|uncertain significance
NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)	single nucleotide variant	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities [RCV003128300]	Chr1:45327380 [GRCh38] Chr1:45793052 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.763G>C (p.Gly255Arg)	single nucleotide variant	Inborn genetic diseases [RCV002905663]	Chr1:45327911 [GRCh38] Chr1:45793583 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.749G>A (p.Arg250Gln)	single nucleotide variant	Inborn genetic diseases [RCV002693991]	Chr1:45327897 [GRCh38] Chr1:45793569 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)	deletion	Inborn genetic diseases [RCV002886991]	Chr1:45327308..45327309 [GRCh38] Chr1:45792980..45792981 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.814G>C (p.Gly272Arg)	single nucleotide variant	Inborn genetic diseases [RCV002912258]	Chr1:45327962 [GRCh38] Chr1:45793634 [GRCh37] Chr1:1p34.1	likely benign
NM_032756.4(HPDL):c.789del (p.Pro264fs)	deletion	Inborn genetic diseases [RCV002665999]	Chr1:45327937 [GRCh38] Chr1:45793609 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.656C>T (p.Ala219Val)	single nucleotide variant	Inborn genetic diseases [RCV002929786]	Chr1:45327804 [GRCh38] Chr1:45793476 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.759dup (p.Pro254fs)	duplication	Inborn genetic diseases [RCV002709248]	Chr1:45327903..45327904 [GRCh38] Chr1:45793575..45793576 [GRCh37] Chr1:1p34.1	pathogenic
NM_032756.4(HPDL):c.238A>G (p.Asn80Asp)	single nucleotide variant	Inborn genetic diseases [RCV002983650]	Chr1:45327386 [GRCh38] Chr1:45793058 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.572T>C (p.Leu191Pro)	single nucleotide variant	Inborn genetic diseases [RCV002941406]	Chr1:45327720 [GRCh38] Chr1:45793392 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.875G>A (p.Gly292Glu)	single nucleotide variant	Inborn genetic diseases [RCV002724798]\|not provided [RCV003154283]	Chr1:45328023 [GRCh38] Chr1:45793695 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.852del (p.Ala286fs)	deletion	not provided [RCV003222613]	Chr1:45328000 [GRCh38] Chr1:45793672 [GRCh37] Chr1:1p34.1	likely pathogenic
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	copy number gain	not provided [RCV003484012]	Chr1:45665404..45955823 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.879G>A (p.Lys293=)	single nucleotide variant	not provided [RCV003406464]	Chr1:45328027 [GRCh38] Chr1:45793699 [GRCh37] Chr1:1p34.1	benign
NM_032756.4(HPDL):c.750G>C (p.Arg250=)	single nucleotide variant	not provided [RCV003406463]	Chr1:45327898 [GRCh38] Chr1:45793570 [GRCh37] Chr1:1p34.1	likely benign
NM_032756.4(HPDL):c.231C>A (p.Ser77Arg)	single nucleotide variant	not provided [RCV003443782]	Chr1:45327379 [GRCh38] Chr1:45793051 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.995C>T (p.Thr332Ile)	single nucleotide variant	not provided [RCV003406465]	Chr1:45328143 [GRCh38] Chr1:45793815 [GRCh37] Chr1:1p34.1	likely benign
NM_032756.4(HPDL):c.1065A>G (p.Arg355=)	single nucleotide variant	not provided [RCV003406466]	Chr1:45328213 [GRCh38] Chr1:45793885 [GRCh37] Chr1:1p34.1	benign
NM_032756.4(HPDL):c.421C>G (p.Pro141Ala)	single nucleotide variant	not provided [RCV003406462]	Chr1:45327569 [GRCh38] Chr1:45793241 [GRCh37] Chr1:1p34.1	uncertain significance
NM_032756.4(HPDL):c.960G>C (p.Lys320Asn)	single nucleotide variant	HPDL-related condition [RCV003907245]	Chr1:45328108 [GRCh38] Chr1:45793780 [GRCh37] Chr1:1p34.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	258
Count of miRNA genes:	231
Interacting mature miRNAs:	248
Transcripts:	ENST00000334815
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

D1S2677

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	45,792,083 - 45,792,217	UniSTS	GRCh37
Build 36	1	45,564,670 - 45,564,804	RGD	NCBI36
Celera	1	44,075,458 - 44,075,594	RGD
Cytogenetic Map	1	p34.1	UniSTS
HuRef	1	43,903,730 - 43,903,872	UniSTS
Marshfield Genetic Map	1	75.66	RGD
Marshfield Genetic Map	1	75.66	UniSTS
Genethon Genetic Map	1	77.6	UniSTS
TNG Radiation Hybrid Map	1	24853.0	UniSTS
Stanford-G3 RH Map	1	2301.0	UniSTS
GeneMap99-G3 RH Map	1	2444.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

229

424

219

102

148

119

Low

1215

705

937

207

833

3067

894

3258

183

1110

1065

155

694

1986

Below cutoff

973

2151

672

308

632

294

1035

1245

350

211

186

408

500

755

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_032756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI808699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ069740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000334815 ⟹ ENSP00000335060

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	45,326,895 - 45,328,710 (+)	Ensembl

RefSeq Acc Id:

NM_032756 ⟹ NP_116145

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	45,326,895 - 45,328,710 (+)	NCBI
GRCh37	1	45,792,545 - 45,794,347 (+)	RGD
Build 36	1	45,565,132 - 45,566,934 (+)	NCBI Archive
Celera	1	44,075,922 - 44,077,724 (+)	RGD
HuRef	1	43,904,200 - 43,906,002 (+)	ENTREZGENE
CHM1_1	1	45,909,348 - 45,911,150 (+)	NCBI
T2T-CHM13v2.0	1	45,198,451 - 45,200,266 (+)	NCBI

Sequence:

show sequence

ACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGC
TGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAA
CGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCG
AAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCAT
GGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCC
CGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGC
AGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCC
GCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCG
GACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTC
GCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAG
CCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCC
TCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCA
GCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCC
AGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTT
ACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGG
GGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCA
GCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGC
CAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTG
CAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTT
TCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAG
AGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGC
AATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGC
TCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGC
CTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGG
CTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGT
AAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGT
CCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAG
CCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTAT
TTGAGGTAGGAATTTAAAACAGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_116145	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07293	(Get FASTA)	NCBI Sequence Viewer
	BAG36457	(Get FASTA)	NCBI Sequence Viewer
	EAX07002	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000335060
	ENSP00000335060.3
GenBank Protein	Q96IR7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_116145 ⟸ NM_032756

- UniProtKB:

B2R9B0 (UniProtKB/Swiss-Prot), Q96IR7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQLALRSGDAVFLVNEGAGSGE
PLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAVVSSPAGIL
SLTLLERAGYRGPFLPGFRPVSSAPGPGWVSRVDHLTLACTPGSSPTLLRWFHDCLGFCHLPLS
PGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTRQDQVEQFLARHKGPGL
QHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAAGHEPHLLARQGILLDGDKGK
FLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQSVQEQSARSQEA

hide sequence

RefSeq Acc Id:

ENSP00000335060 ⟸ ENST00000334815

Protein Domains

VOC

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96IR7-F1-model_v2	AlphaFold	Q96IR7	1-371	view protein structure

Promoters

RGD ID:

6785737

Promoter ID:

HG_KWN:2481

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000334815

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	45,565,141 - 45,566,687 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28242	AgrOrtholog
COSMIC	HPDL	COSMIC
Ensembl Genes	ENSG00000186603	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000334815	ENTREZGENE
	ENST00000334815.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.180.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000186603	GTEx
HGNC ID	HGNC:28242	ENTREZGENE
Human Proteome Map	HPDL	Human Proteome Map
InterPro	4OHPhenylPyrv_dOase	UniProtKB/Swiss-Prot
	4OHPhenylPyrv_dOase_C	UniProtKB/Swiss-Prot
	4OHPhenylPyrv_dOase_N	UniProtKB/Swiss-Prot
	Glyas_Bleomycin-R_OHBP_Dase	UniProtKB/Swiss-Prot
	VOC	UniProtKB/Swiss-Prot
KEGG Report	hsa:84842	UniProtKB/Swiss-Prot
NCBI Gene	84842	ENTREZGENE
OMIM	618994	OMIM
PANTHER	4-HYDROXYPHENYLPYRUVATE DIOXYGENASE-LIKE PROTEIN	UniProtKB/Swiss-Prot
	PTHR11959	UniProtKB/Swiss-Prot
PharmGKB	PA162391595	PharmGKB
PIRSF	HPP_dOase	UniProtKB/Swiss-Prot
PROSITE	VOC	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54593	UniProtKB/Swiss-Prot
UniProt	B2R9B0	ENTREZGENE
	HPDL_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2R9B0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-28	HPDL	4-hydroxyphenylpyruvate dioxygenase like		4-hydroxyphenylpyruvate dioxygenase-like	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar