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Protein

PDZ domain-containing protein GIPC3

Gene

GIPC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ domain-containing protein GIPC3
Gene namesi
Name:GIPC3
Synonyms:C19orf64
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:18183. GIPC3.

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 15 (DFNB15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss with prelingual onset. 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:601869
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461G → R in DFNB15. 1 Publication
VAR_065967
Natural varianti88 – 881M → I in DFNB15. 1 Publication
VAR_065968
Natural varianti94 – 941G → D in DFNB15. 1 Publication
VAR_065969
Natural varianti189 – 1891R → C in DFNB15. 1 Publication
VAR_065970
Natural varianti221 – 2211T → I in DFNB15. 1 Publication
VAR_065971
Natural varianti256 – 2561G → D in DFNB15. 1 Publication
VAR_065972
Natural varianti262 – 2621L → R in DFNB15. 2 Publications
VAR_065973

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MalaCardsiGIPC3.
MIMi601869. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA142671736.

Polymorphism and mutation databases

BioMutaiGIPC3.
DMDMi74716119.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 312312PDZ domain-containing protein GIPC3PRO_0000247191Add
BLAST

Proteomic databases

EPDiQ8TF64.
MaxQBiQ8TF64.
PaxDbiQ8TF64.
PRIDEiQ8TF64.

2D gel databases

OGPiO75227.

PTM databases

iPTMnetiQ8TF64.
PhosphoSiteiQ8TF64.

Expressioni

Tissue specificityi

Widely expressed in adult and fetal tissues. Highest levels are found in jejunum, lymph node, parietal lobe, fetal spleen and fetal thymus. Expressed in cervical, melanoma, chronic myelogenous and gastric cancer cell lines.1 Publication

Gene expression databases

BgeeiQ8TF64.
CleanExiHS_GIPC3.
GenevisibleiQ8TF64. HS.

Organism-specific databases

HPAiHPA061258.

Interactioni

Protein-protein interaction databases

BioGridi125980. 3 interactions.
STRINGi9606.ENSP00000319254.

Structurei

3D structure databases

ProteinModelPortaliQ8TF64.
SMRiQ8TF64. Positions 108-196.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini112 – 19281PDZPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GIPC family.Curated
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3938. Eukaryota.
ENOG410XQ87. LUCA.
GeneTreeiENSGT00390000003420.
HOGENOMiHOG000293347.
HOVERGENiHBG000898.
InParanoidiQ8TF64.
KOiK20056.
OMAiGRIHGFT.
OrthoDBiEOG793B86.
PhylomeDBiQ8TF64.
TreeFamiTF313878.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR017379. UCP038083_PDZ.
[Graphical view]
PfamiPF00595. PDZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038083. UCP038083_GIPC. 1 hit.
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8TF64-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEGAAAREAR GTETPRASAP PPAPSEPPAA PRARPRLVFR TQLAHGSPTG
60 70 80 90 100
KIEGFTNVRE LYAKIAEAFG IAPTEILFCT LNSHKVDMQK LLGGQIGLED
110 120 130 140 150
FIFAHVRGET KEVEVTKTED ALGLTITDNG AGYAFIKRIK EGSIINRIEA
160 170 180 190 200
VCVGDSIEAI NDHSIVGCRH YEVAKMLREL PKSQPFTLRL VQPKRAFDMI
210 220 230 240 250
GQRSRSSKCP VEAKVTSGRE TLRLRSGGAA TVEEAPSEFE EEASRKVDDL
260 270 280 290 300
LESYMGIRDP ELASTMVETS KKTASAQEFA RCLDSVLGEF AFPDEFVVEV
310
WAAIGEAREA CG
Length:312
Mass (Da):33,982
Last modified:June 1, 2002 - v1
Checksum:i854F1C8CAAF5AF1B
GO

Sequence cautioni

The sequence AAC24304.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461G → R in DFNB15. 1 Publication
VAR_065967
Natural varianti88 – 881M → I in DFNB15. 1 Publication
VAR_065968
Natural varianti94 – 941G → D in DFNB15. 1 Publication
VAR_065969
Natural varianti189 – 1891R → C in DFNB15. 1 Publication
VAR_065970
Natural varianti221 – 2211T → I in DFNB15. 1 Publication
VAR_065971
Natural varianti256 – 2561G → D in DFNB15. 1 Publication
VAR_065972
Natural varianti262 – 2621L → R in DFNB15. 2 Publications
VAR_065973

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073738 mRNA. Translation: BAB84712.1.
AC005175 Genomic DNA. Translation: AAC24304.1. Sequence problems.
BC117312 mRNA. Translation: AAI17313.1.
BC117314 mRNA. Translation: AAI17315.1.
CCDSiCCDS32871.1.
PIRiT02669.
RefSeqiNP_573568.1. NM_133261.2.
UniGeneiHs.266873.

Genome annotation databases

EnsembliENST00000322315; ENSP00000319254; ENSG00000179855.
GeneIDi126326.
KEGGihsa:126326.
UCSCiuc002lyd.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073738 mRNA. Translation: BAB84712.1.
AC005175 Genomic DNA. Translation: AAC24304.1. Sequence problems.
BC117312 mRNA. Translation: AAI17313.1.
BC117314 mRNA. Translation: AAI17315.1.
CCDSiCCDS32871.1.
PIRiT02669.
RefSeqiNP_573568.1. NM_133261.2.
UniGeneiHs.266873.

3D structure databases

ProteinModelPortaliQ8TF64.
SMRiQ8TF64. Positions 108-196.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125980. 3 interactions.
STRINGi9606.ENSP00000319254.

PTM databases

iPTMnetiQ8TF64.
PhosphoSiteiQ8TF64.

Polymorphism and mutation databases

BioMutaiGIPC3.
DMDMi74716119.

2D gel databases

OGPiO75227.

Proteomic databases

EPDiQ8TF64.
MaxQBiQ8TF64.
PaxDbiQ8TF64.
PRIDEiQ8TF64.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322315; ENSP00000319254; ENSG00000179855.
GeneIDi126326.
KEGGihsa:126326.
UCSCiuc002lyd.5. human.

Organism-specific databases

CTDi126326.
GeneCardsiGIPC3.
HGNCiHGNC:18183. GIPC3.
HPAiHPA061258.
MalaCardsiGIPC3.
MIMi601869. phenotype.
608792. gene.
neXtProtiNX_Q8TF64.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA142671736.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3938. Eukaryota.
ENOG410XQ87. LUCA.
GeneTreeiENSGT00390000003420.
HOGENOMiHOG000293347.
HOVERGENiHBG000898.
InParanoidiQ8TF64.
KOiK20056.
OMAiGRIHGFT.
OrthoDBiEOG793B86.
PhylomeDBiQ8TF64.
TreeFamiTF313878.

Miscellaneous databases

ChiTaRSiGIPC3. human.
GeneWikiiGIPC3.
GenomeRNAii126326.
PROiQ8TF64.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TF64.
CleanExiHS_GIPC3.
GenevisibleiQ8TF64. HS.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR017379. UCP038083_PDZ.
[Graphical view]
PfamiPF00595. PDZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038083. UCP038083_GIPC. 1 hit.
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2."
    Saitoh T., Mine T., Katoh M.
    Int. J. Oncol. 20:577-582(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p."
    Rehman A.U., Gul K., Morell R.J., Lee K., Ahmed Z.M., Riazuddin S., Ali R.A., Shahzad M., Jaleel A.U., Andrade P.B., Khan S.N., Khan S., Brewer C.C., Ahmad W., Leal S.M., Riazuddin S., Friedman T.B.
    Hum. Genet. 130:759-765(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DFNB15 ARG-46; ILE-88; ASP-94; CYS-189; ILE-221; ASP-256 AND ARG-262.
  5. Cited for: VARIANT DFNB15 ARG-262.

Entry informationi

Entry nameiGIPC3_HUMAN
AccessioniPrimary (citable) accession number: Q8TF64
Secondary accession number(s): O75227
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: June 1, 2002
Last modified: June 8, 2016
This is version 96 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. 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.