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Protein

Visual system homeobox 1

Gene

VSX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi164 – 223HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • neuron development Source: GO_Central
  • neuron maturation Source: Ensembl
  • regulation of transcription, DNA-templated Source: GO_Central
  • response to stimulus Source: UniProtKB-KW
  • retinal bipolar neuron differentiation Source: Ensembl
  • visual perception Source: ProtInc

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processSensory transduction, Transcription, Transcription regulation, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Visual system homeobox 1
Alternative name(s):
Homeodomain protein RINX
Retinal inner nuclear layer homeobox protein
Transcription factor VSX1
Gene namesi
Name:VSX1
Synonyms:RINX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000100987.14
HGNCiHGNC:12723 VSX1
MIMi605020 gene
neXtProtiNX_Q9NZR4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Keratoconus 1 (KTCN1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFrequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.
See also OMIM:148300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06667017L → P in KTCN1. 2 PublicationsCorresponds to variant dbSNP:rs74315436EnsemblClinVar.1
Natural variantiVAR_014244159L → M in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs74315434EnsemblClinVar.1
Natural variantiVAR_014245160G → D in KTCN1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs74315433EnsemblClinVar.1
Natural variantiVAR_014246166R → W in KTCN1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs74315432EnsemblClinVar.1
Natural variantiVAR_063100175Q → H in KTCN1. 1 PublicationCorresponds to variant dbSNP:rs771561481Ensembl.1
Natural variantiVAR_076692239G → R in KTCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749663315Ensembl.1
Natural variantiVAR_014247244H → R in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs148957473EnsemblClinVar.1
Natural variantiVAR_014248247P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 3 PublicationsCorresponds to variant dbSNP:rs576300014EnsemblClinVar.1
Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus.
See also OMIM:614195
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066672256A → S in CAASDS. 1 PublicationCorresponds to variant dbSNP:rs74315435EnsemblClinVar.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi30813
MalaCardsiVSX1
MIMi148300 phenotype
614195 phenotype
OpenTargetsiENSG00000100987
Orphaneti2335 NON RARE IN EUROPE: Isolated keratoconus
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA37334

Polymorphism and mutation databases

BioMutaiVSX1
DMDMi25009572

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000493551 – 365Visual system homeobox 1Add BLAST365

Proteomic databases

PaxDbiQ9NZR4
PeptideAtlasiQ9NZR4
PRIDEiQ9NZR4
ProteomicsDBi83493
83494 [Q9NZR4-2]
83495 [Q9NZR4-3]
83496 [Q9NZR4-4]
83497 [Q9NZR4-5]
83498 [Q9NZR4-6]
83499 [Q9NZR4-7]
83500 [Q9NZR4-8]

PTM databases

iPTMnetiQ9NZR4
PhosphoSitePlusiQ9NZR4

Expressioni

Tissue specificityi

In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed:11978762, expressed in adult retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1, isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina (day 0), weakly in neonatal lens (day 0), choroid (day 0) and cornea (day 0, 4; month 9).4 Publications

Gene expression databases

BgeeiENSG00000100987 Expressed in 65 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_VSX1
GenevisibleiQ9NZR4 HS

Interactioni

Protein-protein interaction databases

BioGridi119037, 11 interactors
STRINGi9606.ENSP00000365899

Structurei

3D structure databases

ProteinModelPortaliQ9NZR4
SMRiQ9NZR4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini224 – 277CVCPROSITE-ProRule annotationAdd BLAST54

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi31 – 38Octapeptide motif8
Motifi161 – 166Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi44 – 127Pro-richAdd BLAST84
Compositional biasi76 – 89Gly/Leu-richAdd BLAST14
Compositional biasi142 – 152Asp/Glu-rich (acidic)Add BLAST11

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiENOG410IRDQ Eukaryota
ENOG4111PWF LUCA
GeneTreeiENSGT00900000140809
HOVERGENiHBG036251
InParanoidiQ9NZR4
KOiK09335
OMAiWGSDHLK
OrthoDBiEOG091G14DA
PhylomeDBiQ9NZR4
TreeFamiTF350743

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR023339 CVC
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS51496 CVC, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9NZR4-1) [UniParc]FASTAAdd to basket
Also known as: L1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG
60 70 80 90 100
QGSGCEGPAV APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC
110 120 130 140 150
LLLADVPFLP PRGPEPAAPL APSRPPPALG RQKRSDSVST SDEDSQSEDR
160 170 180 190 200
NDLKASPTLG KRKKRRHRTV FTAHQLEELE KAFSEAHYPD VYAREMLAVK
210 220 230 240 250
TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA MVRHCIPLPD
260 270 280 290 300
SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG
310 320 330 340 350
SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN
360
STALEGPQPG KVGAT
Note: Major form.
Length:365
Mass (Da):38,431
Last modified:March 1, 2001 - v2
Checksum:iC58BE94767D66FCB
GO
Isoform 2 (identifier: Q9NZR4-2) [UniParc]FASTAAdd to basket
Also known as: S1, L3

The sequence of this isoform differs from the canonical sequence as follows:
     211-239: WFQNRRAKWRKREKRWGGSSVMAEYGLYG → SGVPFLRSKDTTENVSFPHSVSQSAVPSL
     240-365: Missing.

Note: Major form.
Show »
Length:239
Mass (Da):24,996
Checksum:i8F16E19365A59829
GO
Isoform 3 (identifier: Q9NZR4-3) [UniParc]FASTAAdd to basket
Also known as: S2

The sequence of this isoform differs from the canonical sequence as follows:
     141-141: S → SGNQARAFRS...PVVVTSSTEQ
     211-239: WFQNRRAKWRKREKRWGGSSVMAEYGLYG → SGVPFLRSKDTTENVSFPHSVSQSAVPSL
     240-365: Missing.

Note: Minor form.
Show »
Length:374
Mass (Da):39,343
Checksum:i999B9D725C347B0B
GO
Isoform 4 (identifier: Q9NZR4-4) [UniParc]FASTAAdd to basket
Also known as: S3

The sequence of this isoform differs from the canonical sequence as follows:
     142-143: DE → AM
     144-365: Missing.

Note: Minor form.
Show »
Length:143
Mass (Da):14,049
Checksum:i4B1228D8FBF47C95
GO
Isoform 5 (identifier: Q9NZR4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-280: GMHKKSMGMIR → EGETLGCREMK
     281-365: Missing.

Show »
Length:280
Mass (Da):29,863
Checksum:i93F50A50D1724EE9
GO
Isoform 6 (identifier: Q9NZR4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-218: VWFQNRRAK → RVRHWAAEK
     219-365: Missing.

Show »
Length:218
Mass (Da):22,975
Checksum:iC4EEBE486A79C4FF
GO
Isoform 7 (identifier: Q9NZR4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-236: VWFQNRRAKWRKREKRWGGSSVMAEYG → CKLLLLEAPVHWTLQETHRLPRPRGGA
     237-365: Missing.

Show »
Length:236
Mass (Da):24,915
Checksum:iE8D71E1D7C478E32
GO
Isoform 8 (identifier: Q9NZR4-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-301: GMHKKSMGMIRKPGSEDKLAGLWGSDHFKEGS → VQTSAPGGSRSLDFAGDTQAPQTPWWCLMTFS
     302-365: Missing.

Show »
Length:301
Mass (Da):32,054
Checksum:i2D092C371A74D9DD
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06667017L → P in KTCN1. 2 PublicationsCorresponds to variant dbSNP:rs74315436EnsemblClinVar.1
Natural variantiVAR_066671131R → S1 PublicationCorresponds to variant dbSNP:rs6050307EnsemblClinVar.1
Natural variantiVAR_014243144D → E4 PublicationsCorresponds to variant dbSNP:rs140122268EnsemblClinVar.1
Natural variantiVAR_014244159L → M in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs74315434EnsemblClinVar.1
Natural variantiVAR_014245160G → D in KTCN1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs74315433EnsemblClinVar.1
Natural variantiVAR_014246166R → W in KTCN1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs74315432EnsemblClinVar.1
Natural variantiVAR_063100175Q → H in KTCN1. 1 PublicationCorresponds to variant dbSNP:rs771561481Ensembl.1
Natural variantiVAR_076692239G → R in KTCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749663315Ensembl.1
Natural variantiVAR_014247244H → R in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs148957473EnsemblClinVar.1
Natural variantiVAR_014248247P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 3 PublicationsCorresponds to variant dbSNP:rs576300014EnsemblClinVar.1
Natural variantiVAR_066672256A → S in CAASDS. 1 PublicationCorresponds to variant dbSNP:rs74315435EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002299141S → SGNQARAFRSCPCPLGSEPR RGHRPSPHRTPGPSGPDLGG EPRARPRRGRGIRGAAPPAP CCILNPCLSSGVLFPQRCET ATTWFRVEPFDETLGSSTTI SRGPFFPPAPGASLRLWQLR GSGRPGPVVVTSSTEQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_002300142 – 143DE → AM in isoform 4. 1 Publication2
Alternative sequenceiVSP_002301144 – 365Missing in isoform 4. 1 PublicationAdd BLAST222
Alternative sequenceiVSP_039141210 – 236VWFQN…MAEYG → CKLLLLEAPVHWTLQETHRL PRPRGGA in isoform 7. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_039140210 – 218VWFQNRRAK → RVRHWAAEK in isoform 6. 1 Publication9
Alternative sequenceiVSP_002302211 – 239WFQNR…YGLYG → SGVPFLRSKDTTENVSFPHS VSQSAVPSL in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_039142219 – 365Missing in isoform 6. 1 PublicationAdd BLAST147
Alternative sequenceiVSP_039143237 – 365Missing in isoform 7. 1 PublicationAdd BLAST129
Alternative sequenceiVSP_002303240 – 365Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST126
Alternative sequenceiVSP_039145270 – 301GMHKK…FKEGS → VQTSAPGGSRSLDFAGDTQA PQTPWWCLMTFS in isoform 8. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_039144270 – 280GMHKKSMGMIR → EGETLGCREMK in isoform 5. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_039146281 – 365Missing in isoform 5. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_039147302 – 365Missing in isoform 8. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176797 mRNA Translation: AAF37425.2
AF251033 mRNA Translation: AAF99656.1
AF251034 mRNA Translation: AAF99657.1
DQ854807 mRNA Translation: ABI23973.1
DQ854808 mRNA Translation: ABI23974.1
DQ854809 mRNA Translation: ABI23975.1
DQ854810 mRNA Translation: ABI23976.1
DQ854811 mRNA Translation: ABI23977.1
DQ854812 mRNA Translation: ABI23978.1
AL080312 Genomic DNA No translation available.
BC126228 mRNA Translation: AAI26229.1
BC136497 mRNA Translation: AAI36498.1
GU138372 Genomic DNA Translation: ACZ01961.1
CCDSiCCDS13168.1 [Q9NZR4-1]
CCDS13169.1 [Q9NZR4-2]
CCDS58766.1 [Q9NZR4-7]
CCDS58767.1 [Q9NZR4-8]
RefSeqiNP_001243200.1, NM_001256271.1 [Q9NZR4-7]
NP_001243201.1, NM_001256272.1 [Q9NZR4-8]
NP_055403.2, NM_014588.5 [Q9NZR4-1]
NP_955457.1, NM_199425.2 [Q9NZR4-2]
XP_016883326.1, XM_017027837.1 [Q9NZR4-5]
XP_016883327.1, XM_017027838.1 [Q9NZR4-6]
UniGeneiHs.274264

Genome annotation databases

EnsembliENST00000376707; ENSP00000365897; ENSG00000100987 [Q9NZR4-2]
ENST00000376709; ENSP00000365899; ENSG00000100987 [Q9NZR4-1]
ENST00000409285; ENSP00000386612; ENSG00000100987 [Q9NZR4-5]
ENST00000409958; ENSP00000387069; ENSG00000100987 [Q9NZR4-6]
ENST00000429762; ENSP00000401690; ENSG00000100987 [Q9NZR4-8]
ENST00000444511; ENSP00000387720; ENSG00000100987 [Q9NZR4-7]
GeneIDi30813
KEGGihsa:30813
UCSCiuc002wuf.5 human [Q9NZR4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176797 mRNA Translation: AAF37425.2
AF251033 mRNA Translation: AAF99656.1
AF251034 mRNA Translation: AAF99657.1
DQ854807 mRNA Translation: ABI23973.1
DQ854808 mRNA Translation: ABI23974.1
DQ854809 mRNA Translation: ABI23975.1
DQ854810 mRNA Translation: ABI23976.1
DQ854811 mRNA Translation: ABI23977.1
DQ854812 mRNA Translation: ABI23978.1
AL080312 Genomic DNA No translation available.
BC126228 mRNA Translation: AAI26229.1
BC136497 mRNA Translation: AAI36498.1
GU138372 Genomic DNA Translation: ACZ01961.1
CCDSiCCDS13168.1 [Q9NZR4-1]
CCDS13169.1 [Q9NZR4-2]
CCDS58766.1 [Q9NZR4-7]
CCDS58767.1 [Q9NZR4-8]
RefSeqiNP_001243200.1, NM_001256271.1 [Q9NZR4-7]
NP_001243201.1, NM_001256272.1 [Q9NZR4-8]
NP_055403.2, NM_014588.5 [Q9NZR4-1]
NP_955457.1, NM_199425.2 [Q9NZR4-2]
XP_016883326.1, XM_017027837.1 [Q9NZR4-5]
XP_016883327.1, XM_017027838.1 [Q9NZR4-6]
UniGeneiHs.274264

3D structure databases

ProteinModelPortaliQ9NZR4
SMRiQ9NZR4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119037, 11 interactors
STRINGi9606.ENSP00000365899

PTM databases

iPTMnetiQ9NZR4
PhosphoSitePlusiQ9NZR4

Polymorphism and mutation databases

BioMutaiVSX1
DMDMi25009572

Proteomic databases

PaxDbiQ9NZR4
PeptideAtlasiQ9NZR4
PRIDEiQ9NZR4
ProteomicsDBi83493
83494 [Q9NZR4-2]
83495 [Q9NZR4-3]
83496 [Q9NZR4-4]
83497 [Q9NZR4-5]
83498 [Q9NZR4-6]
83499 [Q9NZR4-7]
83500 [Q9NZR4-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376707; ENSP00000365897; ENSG00000100987 [Q9NZR4-2]
ENST00000376709; ENSP00000365899; ENSG00000100987 [Q9NZR4-1]
ENST00000409285; ENSP00000386612; ENSG00000100987 [Q9NZR4-5]
ENST00000409958; ENSP00000387069; ENSG00000100987 [Q9NZR4-6]
ENST00000429762; ENSP00000401690; ENSG00000100987 [Q9NZR4-8]
ENST00000444511; ENSP00000387720; ENSG00000100987 [Q9NZR4-7]
GeneIDi30813
KEGGihsa:30813
UCSCiuc002wuf.5 human [Q9NZR4-1]

Organism-specific databases

CTDi30813
DisGeNETi30813
EuPathDBiHostDB:ENSG00000100987.14
GeneCardsiVSX1
HGNCiHGNC:12723 VSX1
MalaCardsiVSX1
MIMi148300 phenotype
605020 gene
614195 phenotype
neXtProtiNX_Q9NZR4
OpenTargetsiENSG00000100987
Orphaneti2335 NON RARE IN EUROPE: Isolated keratoconus
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA37334
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IRDQ Eukaryota
ENOG4111PWF LUCA
GeneTreeiENSGT00900000140809
HOVERGENiHBG036251
InParanoidiQ9NZR4
KOiK09335
OMAiWGSDHLK
OrthoDBiEOG091G14DA
PhylomeDBiQ9NZR4
TreeFamiTF350743

Miscellaneous databases

GeneWikiiVSX1
GenomeRNAii30813
PROiPR:Q9NZR4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100987 Expressed in 65 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_VSX1
GenevisibleiQ9NZR4 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR023339 CVC
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS51496 CVC, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiVSX1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZR4
Secondary accession number(s): B9EGJ4
, D1MF28, Q0GM60, Q0GM61, Q0GM62, Q0GM63, Q0GM64, Q0GM65, Q5TF40, Q5TF41, Q9HCU3, Q9NU27
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 157 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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