Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Harmonin

Gene

USH1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).By similarity2 Publications

GO - Molecular functioni

  • spectrin binding Source: MGI

GO - Biological processi

  • brush border assembly Source: UniProtKB
  • cell differentiation Source: UniProtKB-KW
  • cellular protein complex assembly Source: UniProtKB
  • equilibrioception Source: HGNC
  • G2/M transition of mitotic cell cycle Source: HGNC
  • photoreceptor cell maintenance Source: HGNC
  • protein localization to microvillus Source: UniProtKB
  • regulation of microvillus length Source: UniProtKB
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Differentiation, Hearing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006611-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Harmonin
Alternative name(s):
Antigen NY-CO-38/NY-CO-37
Autoimmune enteropathy-related antigen AIE-75
Protein PDZ-73
Renal carcinoma antigen NY-REN-3
Usher syndrome type-1C protein
Gene namesi
Name:USH1C
Synonyms:AIE75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12597. USH1C.

Subcellular locationi

GO - Cellular componenti

  • apical part of cell Source: HGNC
  • brush border Source: UniProtKB
  • cytoplasm Source: HGNC
  • cytoskeleton Source: UniProtKB-SubCell
  • cytosol Source: UniProtKB-SubCell
  • microvillus Source: UniProtKB
  • photoreceptor inner segment Source: Ensembl
  • photoreceptor outer segment Source: Ensembl
  • plasma membrane Source: Ensembl
  • stereocilium Source: HGNC
  • synapse Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1C (USH1C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
See also OMIM:276904
Deafness, autosomal recessive, 18A (DFNB18A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:602092

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi103R → H: Strongly reduced affinity for USH1G. 1 Publication1

Keywords - Diseasei

Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi10083.
MalaCardsiUSH1C.
MIMi276900. phenotype.
276904. phenotype.
602092. phenotype.
OpenTargetsiENSG00000006611.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA37226.

Polymorphism and mutation databases

BioMutaiUSH1C.
DMDMi160113087.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000657271 – 552HarmoninAdd BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei219PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y6N9.
PeptideAtlasiQ9Y6N9.
PRIDEiQ9Y6N9.

PTM databases

iPTMnetiQ9Y6N9.
PhosphoSitePlusiQ9Y6N9.

Expressioni

Tissue specificityi

Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.1 Publication

Gene expression databases

BgeeiENSG00000006611.
CleanExiHS_USH1C.
ExpressionAtlasiQ9Y6N9. baseline and differential.
GenevisibleiQ9Y6N9. HS.

Organism-specific databases

HPAiCAB013690.
HPA027398.
HPA027492.
HPA028033.

Interactioni

Subunit structurei

Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (Probable). Part of a complex composed of USH1C, USH1G and MYO7A (PubMed:21709241). Interacts with F-actin (By similarity). Interacts with USH2A (PubMed:16301216). Interacts with SLC4A7 (PubMed:16301216). Interacts (via PDZ1 domain) with the C-terminus of USHBP1 (PubMed:11311560). Interacts (via N-terminus and PDZ 2 domain) with CDH23 (PubMed:19297620). Interacts with USH1G (PubMed:12588794, PubMed:20142502). Interacts with MYO7B (PubMed:24725409, PubMed:26812017). Interacts with CDHR2 and CDHR5; may mediate their interaction with MYO7B at the microvilli tip (PubMed:24725409, PubMed:26812017). Interacts (via PDZ 1 domain) with ANKS4B (PubMed:26812018, PubMed:26812017).By similarity2 Publications9 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CDHR2Q9BYE92EBI-9541226,EBI-493793
CDHR5Q9HBB82EBI-9541226,EBI-9540696
CTNNAL1Q9UBT73EBI-954308,EBI-514206
GPR98Q8WXG9-13EBI-11523636,EBI-11621707
MIPOL1Q8TD103EBI-954308,EBI-2548751
RAC1P630003EBI-954308,EBI-413628
USH2AO75445-13EBI-11523636,EBI-11621644

GO - Molecular functioni

  • spectrin binding Source: MGI

Protein-protein interaction databases

BioGridi115392. 12 interactors.
DIPiDIP-41473N.
IntActiQ9Y6N9. 25 interactors.
MINTiMINT-196953.
STRINGi9606.ENSP00000005226.

Structurei

Secondary structure

1552
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 16Combined sources15
Helixi20 – 36Combined sources17
Helixi39 – 46Combined sources8
Turni47 – 49Combined sources3
Helixi53 – 56Combined sources4
Helixi57 – 62Combined sources6
Helixi63 – 65Combined sources3
Helixi68 – 70Combined sources3
Helixi71 – 77Combined sources7
Beta strandi86 – 91Combined sources6
Beta strandi100 – 105Combined sources6
Helixi106 – 108Combined sources3
Beta strandi110 – 117Combined sources8
Helixi122 – 125Combined sources4
Beta strandi132 – 137Combined sources6
Helixi147 – 154Combined sources8
Beta strandi156 – 166Combined sources11
Beta strandi169 – 172Combined sources4
Beta strandi181 – 184Combined sources4
Helixi185 – 191Combined sources7
Beta strandi208 – 214Combined sources7
Beta strandi217 – 220Combined sources4
Beta strandi224 – 228Combined sources5
Beta strandi231 – 233Combined sources3
Beta strandi235 – 241Combined sources7
Turni246 – 251Combined sources6
Beta strandi257 – 261Combined sources5
Helixi273 – 280Combined sources8
Beta strandi282 – 288Combined sources7
Turni292 – 294Combined sources3
Helixi295 – 298Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X5NNMR-A201-301[»]
2KBQNMR-A1-80[»]
2KBRNMR-A1-80[»]
2KBSNMR-A208-299[»]
2LSRNMR-A1-80[»]
3K1RX-ray2.30A1-192[»]
5F3XX-ray2.65A/C1-194[»]
ProteinModelPortaliQ9Y6N9.
SMRiQ9Y6N9.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y6N9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 169PDZ 1PROSITE-ProRule annotationAdd BLAST83
Domaini211 – 293PDZ 2PROSITE-ProRule annotationAdd BLAST83
Domaini452 – 537PDZ 3PROSITE-ProRule annotationAdd BLAST86

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 86N-terminal domain1 PublicationAdd BLAST86
Regioni194 – 552Mediates interaction with MYO7B2 PublicationsAdd BLAST359

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili310 – 377Sequence analysisAdd BLAST68

Domaini

The PDZ 1 domain mediates interaction with ANKS4B, USHBP1, USH1G, SLC4A7.5 Publications
The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity.1 Publication

Sequence similaritiesi

Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3528. Eukaryota.
ENOG4110362. LUCA.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000126890.
HOVERGENiHBG057181.
InParanoidiQ9Y6N9.
OMAiEDWEAKN.
OrthoDBiEOG091G073L.
PhylomeDBiQ9Y6N9.
TreeFamiTF325033.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR030237. Harmonin.
IPR001478. PDZ.
[Graphical view]
PANTHERiPTHR23116:SF36. PTHR23116:SF36. 1 hit.
PfamiPF00595. PDZ. 3 hits.
[Graphical view]
SMARTiSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 3 hits.
PROSITEiPS50106. PDZ. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6N9-1) [UniParc]FASTAAdd to basket

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
MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI
60 70 80 90 100
NEPSRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL
110 120 130 140 150
SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV
160 170 180 190 200
INLIRTKKTV SIKVRHIGLI PVKSSPDEPL TWQYVDQFVS ESGGVRGSLG
210 220 230 240 250
SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH VKPGSLSAEV
260 270 280 290 300
GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD
310 320 330 340 350
RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA
360 370 380 390 400
EENERYRKEM EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR
410 420 430 440 450
KPKYDQGVEP ELEPADDLDG GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG
460 470 480 490 500
KDVRLLRIKK EGSLDLALEG GVDSPIGKVV VSAVYERGAA ERHGGIVKGD
510 520 530 540 550
EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELT

FF
Length:552
Mass (Da):62,211
Last modified:November 13, 2007 - v3
Checksum:i7E75CEE873C57F41
GO
Isoform 2 (identifier: Q9Y6N9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Show »
Length:521
Mass (Da):58,343
Checksum:iA303D7D48D91A847
GO
Isoform 3 (identifier: Q9Y6N9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-552: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:403
Mass (Da):45,812
Checksum:iAB350B62ED2C44FD
GO
Isoform 4 (identifier: Q9Y6N9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-292: Missing.

Note: No experimental confirmation available.
Show »
Length:533
Mass (Da):60,329
Checksum:iA9D7E121B11E2FBD
GO
Isoform 5 (identifier: Q9Y6N9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-427: YDQGVEPELEPADDLDGGTEEQGE → SFGWFYRYDG...RMVVYQTAFR
     550-552: TFF → ASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR

Note: No experimental confirmation available.
Show »
Length:899
Mass (Da):101,344
Checksum:i6DA49F7674BFA920
GO

Sequence cautioni

The sequence AAC18049 differs from that shown. Reason: Frameshift at position 552.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti103R → S in BAA81739 (PubMed:10500064).Curated1
Sequence conflicti280S → N in AAC18049 (PubMed:9610721).Curated1
Sequence conflicti280S → N in AAC18048 (PubMed:9610721).Curated1
Sequence conflicti305A → T in BAA81739 (PubMed:10500064).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012320519E → D.3 PublicationsCorresponds to variant rs1064074dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0037891 – 31Missing in isoform 2. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_007422274 – 292Missing in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_003790404 – 552Missing in isoform 3. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_043520404 – 427YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5. CuratedAdd BLAST24
Alternative sequenceiVSP_043521550 – 552TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5. Curated3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039700 mRNA. Translation: AAC18049.1. Frameshift.
AF039699 mRNA. Translation: AAC18048.1.
AB006955 mRNA. Translation: BAA81739.1.
AB018687 mRNA. Translation: BAA81740.1.
AK290788 mRNA. Translation: BAF83477.1.
AC124799 Genomic DNA. No translation available.
BC016057 mRNA. Translation: AAH16057.1.
CH471064 Genomic DNA. Translation: EAW68432.1.
BK000147 mRNA. Translation: DAA00086.1.
CCDSiCCDS31438.1. [Q9Y6N9-1]
CCDS73265.1. [Q9Y6N9-4]
CCDS7825.1. [Q9Y6N9-5]
RefSeqiNP_001284693.1. NM_001297764.1. [Q9Y6N9-4]
NP_005700.2. NM_005709.3. [Q9Y6N9-1]
NP_710142.1. NM_153676.3. [Q9Y6N9-5]
UniGeneiHs.502072.

Genome annotation databases

EnsembliENST00000005226; ENSP00000005226; ENSG00000006611. [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611. [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611. [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611. [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611. [Q9Y6N9-2]
GeneIDi10083.
KEGGihsa:10083.
UCSCiuc001mne.4. human. [Q9Y6N9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the USH1C gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039700 mRNA. Translation: AAC18049.1. Frameshift.
AF039699 mRNA. Translation: AAC18048.1.
AB006955 mRNA. Translation: BAA81739.1.
AB018687 mRNA. Translation: BAA81740.1.
AK290788 mRNA. Translation: BAF83477.1.
AC124799 Genomic DNA. No translation available.
BC016057 mRNA. Translation: AAH16057.1.
CH471064 Genomic DNA. Translation: EAW68432.1.
BK000147 mRNA. Translation: DAA00086.1.
CCDSiCCDS31438.1. [Q9Y6N9-1]
CCDS73265.1. [Q9Y6N9-4]
CCDS7825.1. [Q9Y6N9-5]
RefSeqiNP_001284693.1. NM_001297764.1. [Q9Y6N9-4]
NP_005700.2. NM_005709.3. [Q9Y6N9-1]
NP_710142.1. NM_153676.3. [Q9Y6N9-5]
UniGeneiHs.502072.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X5NNMR-A201-301[»]
2KBQNMR-A1-80[»]
2KBRNMR-A1-80[»]
2KBSNMR-A208-299[»]
2LSRNMR-A1-80[»]
3K1RX-ray2.30A1-192[»]
5F3XX-ray2.65A/C1-194[»]
ProteinModelPortaliQ9Y6N9.
SMRiQ9Y6N9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115392. 12 interactors.
DIPiDIP-41473N.
IntActiQ9Y6N9. 25 interactors.
MINTiMINT-196953.
STRINGi9606.ENSP00000005226.

PTM databases

iPTMnetiQ9Y6N9.
PhosphoSitePlusiQ9Y6N9.

Polymorphism and mutation databases

BioMutaiUSH1C.
DMDMi160113087.

Proteomic databases

PaxDbiQ9Y6N9.
PeptideAtlasiQ9Y6N9.
PRIDEiQ9Y6N9.

Protocols and materials databases

DNASUi10083.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000005226; ENSP00000005226; ENSG00000006611. [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611. [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611. [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611. [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611. [Q9Y6N9-2]
GeneIDi10083.
KEGGihsa:10083.
UCSCiuc001mne.4. human. [Q9Y6N9-1]

Organism-specific databases

CTDi10083.
DisGeNETi10083.
GeneCardsiUSH1C.
GeneReviewsiUSH1C.
H-InvDBHIX0009478.
HGNCiHGNC:12597. USH1C.
HPAiCAB013690.
HPA027398.
HPA027492.
HPA028033.
MalaCardsiUSH1C.
MIMi276900. phenotype.
276904. phenotype.
602092. phenotype.
605242. gene.
neXtProtiNX_Q9Y6N9.
OpenTargetsiENSG00000006611.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA37226.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3528. Eukaryota.
ENOG4110362. LUCA.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000126890.
HOVERGENiHBG057181.
InParanoidiQ9Y6N9.
OMAiEDWEAKN.
OrthoDBiEOG091G073L.
PhylomeDBiQ9Y6N9.
TreeFamiTF325033.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006611-MONOMER.

Miscellaneous databases

ChiTaRSiUSH1C. human.
EvolutionaryTraceiQ9Y6N9.
GeneWikiiUSH1C.
GenomeRNAii10083.
PROiQ9Y6N9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006611.
CleanExiHS_USH1C.
ExpressionAtlasiQ9Y6N9. baseline and differential.
GenevisibleiQ9Y6N9. HS.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR030237. Harmonin.
IPR001478. PDZ.
[Graphical view]
PANTHERiPTHR23116:SF36. PTHR23116:SF36. 1 hit.
PfamiPF00595. PDZ. 3 hits.
[Graphical view]
SMARTiSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 3 hits.
PROSITEiPS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUSH1C_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6N9
Secondary accession number(s): A8K423
, Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 13, 2007
Last modified: November 30, 2016
This is version 155 of the entry and version 3 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.