Spg21 (SPG21 abhydrolase domain containing, maspardin)

Gene: Spg21 (SPG21 abhydrolase domain containing, maspardin) Ictidomys tridecemlineatus

Analyze

Symbol:

Spg21

Name:

SPG21 abhydrolase domain containing, maspardin

RGD ID:

12539522

Description:

ENCODES a protein that exhibits CD4 receptor binding (inferred); INVOLVED IN collateral sprouting (ortholog); epidermal growth factor receptor signaling pathway (ortholog); gene expression (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN intracellular membrane-bounded organelle (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

maspardin; spastic paraplegia 21 (autosomal recessive, Mast syndrome); SPG21, maspardin

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	107,453,322 - 107,479,939 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936471	25,301,385 - 25,327,835 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Bloom syndrome (ISO)

colorectal cancer (ISO)

genetic disease (ISO)

hereditary spastic paraplegia (ISO)

MAST syndrome (ISO)

nemaline myopathy 6 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

collateral sprouting (ISO)

epidermal growth factor receptor signaling pathway (ISO)

gene expression (ISO)

limb development (ISO)

locomotory behavior (ISO)

neuromuscular process (ISO)

neuron maturation (ISO)

response to epidermal growth factor (ISO)

Cellular Component

cytoplasm (IEA)

cytosol (IEA)

intracellular membrane-bounded organelle (ISO)

trans-Golgi network transport vesicle (IEA)

Molecular Function

CD4 receptor binding (IEA)

protein binding (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Spg21
(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_024408640	107,453,322 - 107,479,939 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936471	25,301,385 - 25,327,835 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SPG21
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	64,963,022 - 64,989,914 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	64,963,022 - 64,990,310 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	65,255,363 - 65,282,252 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	63,042,416 - 63,069,304 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	63,042,415 - 63,069,304	NCBI
Celera	15	42,133,429 - 42,160,447 (-)	NCBI		Celera
Cytogenetic Map	15	q22.31	NCBI
HuRef	15	42,080,418 - 42,107,231 (-)	NCBI		HuRef
CHM1_1	15	65,375,222 - 65,402,107 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	62,772,442 - 62,799,314 (-)	NCBI		T2T-CHM13v2.0

Spg21
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	65,360,571 - 65,395,753 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	65,368,229 - 65,395,752 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	65,453,289 - 65,488,470 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	65,460,947 - 65,488,470 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	65,308,744 - 65,336,277 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	65,258,977 - 65,285,461 (+)	NCBI		MGSCv36	mm8
Celera	9	62,690,393 - 62,717,863 (+)	NCBI		Celera
Cytogenetic Map	9	C	NCBI
cM Map	9	35.32	NCBI

Spg21
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	74,876,136 - 74,903,676 (+)	NCBI		GRCr8
mRatBN7.2	8	65,980,992 - 66,008,537 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	65,980,962 - 66,008,536 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	71,492,944 - 71,521,957 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	69,765,956 - 69,794,969 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	67,635,990 - 67,663,524 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	70,994,531 - 71,022,302 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	70,994,563 - 71,022,331 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	70,682,793 - 70,710,183 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	69,710,883 - 69,738,352 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	69,729,936 - 69,757,405 (+)	NCBI
Celera	8	65,378,789 - 65,404,911 (+)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Spg21
(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_004955450	10,424,394 - 10,457,804 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	10,424,394 - 10,455,680 (+)	NCBI	ChiLan1.0	ChiLan1.0

SPG21
(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	16	54,197,534 - 54,235,925 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	58,380,799 - 58,407,491 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	43,902,865 - 43,929,663 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	62,187,767 - 62,213,740 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	62,187,767 - 62,213,741 (-)	Ensembl	panpan1.1		panPan2

SPG21
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	29,358,292 - 29,378,988 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	29,345,431 - 29,378,942 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	29,285,790 - 29,306,490 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	29,545,028 - 29,565,734 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	29,545,035 - 29,565,782 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	29,477,466 - 29,498,604 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	29,539,453 - 29,559,932 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	29,780,075 - 29,800,979 (-)	NCBI		UU_Cfam_GSD_1.0

SPG21
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	107,011,547 - 107,036,347 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	107,011,731 - 107,036,353 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	117,675,801 - 117,700,323 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SPG21
(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	26	18,596,106 - 18,624,287 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	18,596,204 - 18,624,534 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	122,809,246 - 122,837,429 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Spg21
(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_004624781	7,519,433 - 7,548,572 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624781	7,519,007 - 7,548,314 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_013357615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040274452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040274453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010003700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

XM_013357615 ⟹ XP_013213069

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024408640	107,453,322 - 107,479,660 (-)	NCBI
SpeTri2.0	NW_004936471	25,301,385 - 25,327,835 (-)	NCBI

Sequence:

show sequence

TGGAGGCTCGCGCCCGCTGAGCACACGGTTCCGGAGGAGGGAGCGCCGCGGCCCGGGCTTGCTC
GGCCGCGCGCCCCGCCCCTTGGAGGCCGGGCTCCAGCGCTCCCCCGCTCCCCCGCTCCCCCGCC
AGCTGTGTCTGCGGGTCCTCTGGGCTCTGGCTGCGGGTCCCAGCCGCCTCCATCTACTCGGATA
TAGGAGCAAAGAGCCGCCTGGAGCTGGAAGCAAAGGGACGTGGGGGTGGCCACGGCAGGGTTAA
CCTCCATTTCAGCTAATCATGGGAGAGATTAAAGTCTCTCCTGATTATAACTGGTTTAGAAGTA
CAGTTCCCCTTAAAAAGATTATCGTAGATGATGATGACAGTAAAATATGGTCGCTTTATGATGC
GGGCCCCAGAAGTATCAGGTGTCCTCTCATATTTCTCCCCCCTGTCAGCGGAACTGCAGATGTA
TTTTTCCGGCAGATTTTGGCTTTGACTGGATGGGGCTATCGGGTTATAGCTTTGCAGTATCCAG
TTTATTGGGACCATCTTGAATTCTGTGATGGATTCAGAAAACTCTTAGACCATTTACAATTGGA
TAAAGTTCATCTATTTGGGGCTTCTTTGGGAGGCTTTTTGGCCCAAAAGTTTGCTGAATATACT
CACAAATCACCTAGAGTCCATTCCCTCATCCTCTGCAATTCCTTCAGTGATACCTCTATCTTTA
ACCAAACTTGGACTGCAAACAGCTTTTGGCTGATGCCAGCATTTATGCTCAAAAAGATAGTTCT
TGGAAACTTTTCGTCTGGCCCAGTGGACCCAATGATGGCTGATGCCATTGATTTCATGGTGGAC
AGGCTGGAAAGTTTGGGTCAGAGTGAACTGGCTTCAAGACTTACCCTGAATTGTCAGAATTCTT
ATGTGGAACCTCATAAAATTCGGGACATCCCTGTAACCATAATGGATGTATTTGACCAGAGTGC
ACTTTCAACTGAAGCTAAAGAAGAAATGTACAAACTGTATCCTAATGCCCGGAGAGCTCACCTT
AAAACTGGAGGCAATTTTCCCTACCTGTGTAGAAGTGCAGAAGTGAATCTTTATGTACAGATAC
ATTTGCTGCAGTTCCATGGAACCAAATATGCTGCCATTGACCCATCTATGGTCAGTGCTGAGGA
GCTTGAGGTGCAGAAAGGCAACCTCAGCGTCAGCCAGGAGGAGCAGTAGATGTGGCCTTTGCTG
TTGCTGTGAGGTGATCCAGTGTGTTCTTGTACAATCAGTGGCGTCAGCACCACCAGTCAGCCTC
TTCCTTCAGGCTCGGCAGGCTCACCGGTTCTCACTGTGTTTTGGAAGTAGGACTGATTGTCATC
TTGACAGGCAGCAGCTCTTCTATGCCAGTGTAACTAACTGTCCCCATCTCGATTTTTTTAGCTT
TTGAAATTGAAAAAATACTTTTGAAGACTCACATTTTACAAATTGTGAAAATTTACTATCAAAA
GTCTTTACCATTGTGTTAAGTGAATACTAATTTCTGAGATTTGGGATTCTGAGGGTTTTTCCTT
TTTCTGTTTCCTGTCTTCTCGACTTTTGTTCTTTGCTGTAAATGTTCACATCCAGGTCATGTAT
CAAAAGGACACCGGTTTTTTTATGCTTTCTTGGCATAGCCATCATCAGAGAGCTAAGGCTGGCA
CTCTGCCGTTAGGTTTCCTGCACATCAACTACTTTTAATTTCCAGTTAAGCACATTATTTGGAA
TGTAAGCTGTTTTCTTTCTAGCCATTATGGTCATTTGAATAAAAATTAAGTTTCAGTGA

hide sequence

RefSeq Acc Id:

XM_040274452 ⟹ XP_040130386

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024408640	107,453,322 - 107,479,939 (-)	NCBI

RefSeq Acc Id:

XM_040274453 ⟹ XP_040130387

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024408640	107,453,322 - 107,477,366 (-)	NCBI

Protein Sequences


Protein RefSeqs	XP_013213069	(Get FASTA)	NCBI Sequence Viewer
	XP_040130386	(Get FASTA)	NCBI Sequence Viewer
	XP_040130387	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000009058.2
	ENSSTOP00000027269.1
GenBank Protein	KAG3262059	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_013213069 ⟸ XM_013357615
- Peptide Label:	isoform X2
- UniProtKB:	A0A287D169 (UniProtKB/TrEMBL), I3MET8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGEIKVSPDYNWFRSTVPLKKIIVDDDDSKIWSLYDAGPRSIRCPLIFLPPVSGTADVFFRQIL ALTGWGYRVIALQYPVYWDHLEFCDGFRKLLDHLQLDKVHLFGASLGGFLAQKFAEYTHKSPRV HSLILCNSFSDTSIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADAIDFMVDRLESLG QSELASRLTLNCQNSYVEPHKIRDIPVTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNF PYLCRSAEVNLYVQIHLLQFHGTKYAAIDPSMVSAEELEVQKGNLSVSQEEQ hide sequence

RefSeq Acc Id:	XP_040130386 ⟸ XM_040274452
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_040130387 ⟸ XM_040274453
- Peptide Label:	isoform X2
- UniProtKB:	A0A287D169 (UniProtKB/TrEMBL), I3MET8 (UniProtKB/TrEMBL)

Protein Domains

AB hydrolase-1

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000010101	UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000010098.3	UniProtKB/TrEMBL
	ENSSTOT00000039614.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.1820	UniProtKB/TrEMBL
InterPro	AB_hydrolase	UniProtKB/TrEMBL
	AB_hydrolase_1	UniProtKB/TrEMBL
	Maspardin	UniProtKB/TrEMBL
NCBI Gene	Spg21	ENTREZGENE
PANTHER	MASPARDIN	UniProtKB/TrEMBL
	PTHR15913	UniProtKB/TrEMBL
Pfam	Abhydrolase_1	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53474	UniProtKB/TrEMBL
UniProt	A0A287D169	ENTREZGENE, UniProtKB/TrEMBL
	I3MET8	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-02-05	Spg21	SPG21 abhydrolase domain containing, maspardin		SPG21, maspardin	Symbol and/or name change	5135510	APPROVED
2017-02-07	Spg21	SPG21, maspardin		spastic paraplegia 21 (autosomal recessive, Mast syndrome)	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)

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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM