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Gene: HEPHL1 (hephaestin like 1) Pan paniscus

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Symbol:

HEPHL1

Name:

hephaestin like 1

RGD ID:

11898122

Description:

ENCODES a protein that exhibits copper ion binding (inferred); ferroxidase activity (inferred); metal ion binding (inferred); INVOLVED IN intracellular iron ion homeostasis (inferred); iron ion transport (inferred); ASSOCIATED WITH intellectual disability (ortholog); Lichen Planus Follicularis (ortholog); Pili Torti, Developmental Delay, Neurological Abnormalities (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

ferroxidase HEPHL1; hephaestin-like protein 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	HEPHL1 (hephaestin like 1)	NCBI	Ortholog
Mus musculus (house mouse):	Hephl1 (hephaestin-like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Hephl1 (hephaestin-like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Hephl1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	HEPHL1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hephl1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	HEPHL1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	HEPHL1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Hephl1 (hephaestin like 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	94,875,671 - 94,969,244 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	95,967,401 - 96,060,643 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	89,035,265 - 89,127,508 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	92,521,421 - 92,613,455 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	92,521,421 - 92,613,455 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Bonobo	intellectual disability		ISO	RGD:1345614	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
HEPHL1	Bonobo	Lichen Planus Follicularis		ISO	RGD:1345614	8554872	ClinVar Annotator: match by term: Lichen planus follicularis	ClinVar
HEPHL1	Bonobo	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	8554872	ClinVar Annotator: match by term: HEPHL1-related condition \| ClinVar Annotator: match by term: Pili torti more ...	ClinVar	PMID:25741868\|PMID:28492532\|PMID:31125343

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Bonobo	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Bonobo	intracellular iron ion homeostasis	involved_in	IEA	UniProtKB:Q6MZM0\|ensembl:ENSP00000313699	150520179		Ensembl	GO_REF:0000107
HEPHL1	Bonobo	iron ion transport	involved_in	IEA	PANTHER:PTN002619517	150520179		TreeGrafter	GO_REF:0000118

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Bonobo	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
HEPHL1	Bonobo	plasma membrane	located_in	IEA	PANTHER:PTN002619517	150520179		TreeGrafter	GO_REF:0000118

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HEPHL1	Bonobo	copper ion binding	enables	IEA	InterPro:IPR002355\|InterPro:IPR011706\|InterPro:IPR011707	150520179		InterPro	GO_REF:0000002
HEPHL1	Bonobo	ferroxidase activity	enables	IEA	UniProtKB:Q6MZM0\|ensembl:ENSP00000313699	150520179		Ensembl	GO_REF:0000107
HEPHL1	Bonobo	ferroxidase activity	enables	IEA	PANTHER:PTN002619517	150520179		TreeGrafter	GO_REF:0000118
HEPHL1	Bonobo	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
HEPHL1	Bonobo	oxidoreductase activity	enables	IEA	PANTHER:PTN002619517	150520179		TreeGrafter	GO_REF:0000118
HEPHL1	Bonobo	oxidoreductase activity	enables	IEA	InterPro:IPR011706	150520179		InterPro	GO_REF:0000002
HEPHL1	Bonobo	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043

PMID:22301074	PMID:30032202

HEPHL1
(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	9	94,875,671 - 94,969,244 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	95,967,401 - 96,060,643 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	89,035,265 - 89,127,508 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	92,521,421 - 92,613,455 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	92,521,421 - 92,613,455 (+)	Ensembl	panpan1.1		panPan2

HEPHL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	94,021,354 - 94,114,208 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,021,354 - 94,114,208 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,754,520 - 93,847,374 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,394,026 - 93,487,022 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	91,042,195 - 91,135,169 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,829,206 - 89,922,514 (+)	NCBI		HuRef
CHM1_1	11	93,637,403 - 93,730,368 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	93,938,102 - 94,030,957 (+)	NCBI		T2T-CHM13v2.0

Hephl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	14,963,137 - 15,023,466 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	14,963,137 - 15,023,404 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	15,051,841 - 15,112,170 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	15,051,841 - 15,112,108 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	14,856,285 - 14,916,552 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	14,804,011 - 14,862,497 (-)	NCBI		MGSCv36	mm8
Celera	9	12,332,719 - 12,393,081 (-)	NCBI		Celera
Cytogenetic Map	9	A2	NCBI

Hephl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	20,178,190 - 20,246,698 (-)	NCBI		GRCr8
mRatBN7.2	8	11,896,768 - 11,965,282 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	11,898,532 - 11,965,267 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	15,880,896 - 15,949,552 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	14,178,657 - 14,247,294 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	12,160,022 - 12,228,389 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	13,614,800 - 13,680,870 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	13,614,800 - 13,680,870 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	13,555,911 - 13,622,279 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	11,858,152 - 11,925,452 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	8	13,367,554 - 13,434,143 (-)	NCBI		Celera
Cytogenetic Map	8	q12	NCBI

Hephl1
(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 Ensembl	NW_004955414	461,212 - 551,323 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	461,212 - 551,323 (-)	NCBI	ChiLan1.0	ChiLan1.0

HEPHL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	6,720,472 - 6,813,946 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	6,716,562 - 6,814,486 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	6,729,881 - 6,823,331 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	6,900,421 - 6,994,141 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	6,901,997 - 6,994,165 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	6,681,088 - 6,774,590 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	6,750,370 - 6,844,426 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	6,800,696 - 6,894,096 (-)	NCBI		UU_Cfam_GSD_1.0

Hephl1
(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_024404947	79,045,306 - 79,115,031 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936674	778,160 - 846,119 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936674	778,160 - 846,119 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HEPHL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	26,355,996 - 26,437,442 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	26,356,159 - 26,438,315 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	30,088,640 - 30,170,534 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HEPHL1
(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	1	85,268,791 - 85,348,816 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	85,269,726 - 85,346,988 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	40,462,062 - 40,538,402 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hephl1
(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_004624735	38,687,298 - 38,755,523 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	38,687,298 - 38,757,256 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	XM_003813788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_057299218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSPPAT00000057280 ⟹ ENSPPAP00000034398

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	11	92,521,421 - 92,613,455 (+)	Ensembl

RefSeq Acc Id:

XM_057299218 ⟹ XP_057155201

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	9	94,875,671 - 94,969,244 (+)	NCBI
NHGRI_mPanPan1	11	95,967,401 - 96,060,643 (+)	NCBI


Protein RefSeqs	XP_057155201	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000034398.1

Ensembl Acc Id:

ENSPPAP00000034398 ⟸ ENSPPAT00000057280

RefSeq Acc Id:	XP_057155201 ⟸ XM_057299218
- UniProtKB:	A0A2R9BXI6 (UniProtKB/TrEMBL)

Protein Domains

Plastocyanin-like

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000040046	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000057280.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.40.420	UniProtKB/TrEMBL
InterPro	Cu-oxidase_2	UniProtKB/TrEMBL
	Cu-oxidase_3	UniProtKB/TrEMBL
	Cu-oxidase_fam	UniProtKB/TrEMBL
	Cu_oxidase_CS	UniProtKB/TrEMBL
	Cu_oxidase_Cu_BS	UniProtKB/TrEMBL
	Cupredoxin	UniProtKB/TrEMBL
NCBI Gene	HEPHL1	ENTREZGENE
PANTHER	FERROXIDASE HEPHL1	UniProtKB/TrEMBL
	MULTI-COPPER OXIDASE	UniProtKB/TrEMBL
Pfam	Cu-oxidase_2	UniProtKB/TrEMBL
	Cu-oxidase_3	UniProtKB/TrEMBL
PROSITE	MULTICOPPER_OXIDASE1	UniProtKB/TrEMBL
	MULTICOPPER_OXIDASE2	UniProtKB/TrEMBL
Superfamily-SCOP	SSF49503	UniProtKB/TrEMBL
UniProt	A0A2R9BXI6	ENTREZGENE, UniProtKB/TrEMBL

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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