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Protein

Growth arrest-specific protein 8

Gene

GAS8

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

Functioni

Cytoskeletal linker which binds microtubules and probably functions in axonemal and non-axonemal dynein regulation. May play a role in the spermatozoa motility (By similarity). May play a role in cilia motility (PubMed:26387594).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • cellular protein localization Source: GO_Central
  • cilium movement involved in cell motility Source: GO_Central
  • flagellated sperm motility Source: UniProtKB
  • negative regulation of cell proliferation Source: ProtInc
  • regulation of microtubule binding Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141013-MONOMER.
ReactomeiR-HSA-5635838. Activation of SMO.

Names & Taxonomyi

Protein namesi
Recommended name:
Growth arrest-specific protein 8
Short name:
GAS-8
Alternative name(s):
Growth arrest-specific protein 11
Short name:
GAS-11
Gene namesi
Name:GAS8
Synonyms:GAS11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4166. GAS8.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • Golgi apparatus Source: GO_Central
  • microtubule Source: UniProtKB
  • motile cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, Golgi apparatus, Microtubule

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 33 (CILD33)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive.
See also OMIM:616726

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi2622.
MIMi616726. phenotype.
OpenTargetsiENSG00000141013.
ENSG00000283182.
PharmGKBiPA28579.

Polymorphism and mutation databases

BioMutaiGAS8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002203771 – 478Growth arrest-specific protein 8Add BLAST478

Proteomic databases

MaxQBiO95995.
PaxDbiO95995.
PeptideAtlasiO95995.
PRIDEiO95995.

PTM databases

iPTMnetiO95995.
PhosphoSitePlusiO95995.

Expressioni

Tissue specificityi

Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas and liver. Weakly or not expressed in brain, placenta, lung and kidney (PubMed:9790751).2 Publications

Gene expression databases

BgeeiENSG00000141013.
CleanExiHS_GAS8.
ExpressionAtlasiO95995. baseline and differential.
GenevisibleiO95995. HS.

Organism-specific databases

HPAiHPA041311.
HPA048238.

Interactioni

Subunit structurei

Interacts with microtubules.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108892. 6 interactors.
IntActiO95995. 47 interactors.
STRINGi9606.ENSP00000268699.

Structurei

3D structure databases

ProteinModelPortaliO95995.
SMRiO95995.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 114Regulates microtubule-bindingBy similarityAdd BLAST114
Regioni115 – 258Microtubule-bindingBy similarityAdd BLAST144

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili242 – 427Sequence analysisAdd BLAST186

Sequence similaritiesi

Belongs to the GAS8 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IE2T. Eukaryota.
ENOG410XPBD. LUCA.
GeneTreeiENSGT00390000009477.
HOGENOMiHOG000038763.
HOVERGENiHBG039458.
InParanoidiO95995.
KOiK19942.
OMAiEHRTQEG.
OrthoDBiEOG091G0851.
PhylomeDBiO95995.
TreeFamiTF323819.

Family and domain databases

InterProiIPR025593. GAS8.
[Graphical view]
PfamiPF13851. GAS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95995-1) [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
MAPKKKGKKG KAKGTPIVDG LAPEDMSKEQ VEEHVSRIRE ELDREREERN
60 70 80 90 100
YFQLERDKIH TFWEITRRQL EEKKAELRNK DREMEEAEER HQVEIKVYKQ
110 120 130 140 150
KVKHLLYEHQ NNLTEMKAEG TVVMKLAQKE HRIQESVLRK DMRALKVELK
160 170 180 190 200
EQELASEVVV KNLRLKHTEE ITRMRNDFER QVREIEAKYD KKMKMLRDEL
210 220 230 240 250
DLRRKTELHE VEERKNGQIH TLMQRHEEAF TDIKNYYNDI TLNNLALINS
260 270 280 290 300
LKEQMEDMRK KEDHLEREMA EVSGQNKRLA DPLQKAREEM SEMQKQLANY
310 320 330 340 350
ERDKQILLCT KARLKVREKE LKDLQWEHEV LEQRFTKVQQ ERDELYRKFT
360 370 380 390 400
AAIQEVQQKT GFKNLVLERK LQALSAAVEK KEVQFNEVLA ASNLDPAALT
410 420 430 440 450
LVSRKLEDVL ESKNSTIKDL QYELAQVCKA HNDLLRTYEA KLLAFGIPLD
460 470
NVGFKPLETA VIGQTLGQGP AGLVGTPT
Length:478
Mass (Da):56,356
Last modified:May 1, 1999 - v1
Checksum:i2EDBC7981868EB12
GO
Isoform 2 (identifier: O95995-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.

Show »
Length:453
Mass (Da):53,809
Checksum:i2EAE549BCB61A155
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti33E → G in BAH12677 (PubMed:14702039).Curated1
Sequence conflicti87A → V in BAH12677 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016006199E → K.Corresponds to variant rs868044dbSNPEnsembl.1
Natural variantiVAR_049230259R → Q.Corresponds to variant rs17178299dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0548051 – 25Missing in isoform 2. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF050079 mRNA. Translation: AAC69519.1.
AF050078
, AF050068, AF050069, AF050070, AF050071, AF050072, AF050073, AF050074, AF050075, AF050076, AF050077 Genomic DNA. Translation: AAC69518.1.
AK315261 mRNA. Translation: BAG37678.1.
AK297857 mRNA. Translation: BAH12677.1.
AC133919 Genomic DNA. No translation available.
CH471184 Genomic DNA. Translation: EAW66661.1.
CH471184 Genomic DNA. Translation: EAW66659.1.
BC104785 mRNA. Translation: AAI04786.1.
BC112121 mRNA. Translation: AAI12122.1.
CCDSiCCDS10992.1. [O95995-1]
CCDS67101.1. [O95995-2]
RefSeqiNP_001273134.1. NM_001286205.1.
NP_001273137.1. NM_001286208.1.
NP_001273138.1. NM_001286209.1. [O95995-2]
NP_001472.1. NM_001481.2. [O95995-1]
XP_005256361.1. XM_005256304.4. [O95995-2]
UniGeneiHs.431792.

Genome annotation databases

EnsembliENST00000268699; ENSP00000268699; ENSG00000141013. [O95995-1]
ENST00000536122; ENSP00000440977; ENSG00000283182. [O95995-2]
GeneIDi2622.
KEGGihsa:2622.
UCSCiuc002fqi.1. human. [O95995-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF050079 mRNA. Translation: AAC69519.1.
AF050078
, AF050068, AF050069, AF050070, AF050071, AF050072, AF050073, AF050074, AF050075, AF050076, AF050077 Genomic DNA. Translation: AAC69518.1.
AK315261 mRNA. Translation: BAG37678.1.
AK297857 mRNA. Translation: BAH12677.1.
AC133919 Genomic DNA. No translation available.
CH471184 Genomic DNA. Translation: EAW66661.1.
CH471184 Genomic DNA. Translation: EAW66659.1.
BC104785 mRNA. Translation: AAI04786.1.
BC112121 mRNA. Translation: AAI12122.1.
CCDSiCCDS10992.1. [O95995-1]
CCDS67101.1. [O95995-2]
RefSeqiNP_001273134.1. NM_001286205.1.
NP_001273137.1. NM_001286208.1.
NP_001273138.1. NM_001286209.1. [O95995-2]
NP_001472.1. NM_001481.2. [O95995-1]
XP_005256361.1. XM_005256304.4. [O95995-2]
UniGeneiHs.431792.

3D structure databases

ProteinModelPortaliO95995.
SMRiO95995.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108892. 6 interactors.
IntActiO95995. 47 interactors.
STRINGi9606.ENSP00000268699.

PTM databases

iPTMnetiO95995.
PhosphoSitePlusiO95995.

Polymorphism and mutation databases

BioMutaiGAS8.

Proteomic databases

MaxQBiO95995.
PaxDbiO95995.
PeptideAtlasiO95995.
PRIDEiO95995.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268699; ENSP00000268699; ENSG00000141013. [O95995-1]
ENST00000536122; ENSP00000440977; ENSG00000283182. [O95995-2]
GeneIDi2622.
KEGGihsa:2622.
UCSCiuc002fqi.1. human. [O95995-1]

Organism-specific databases

CTDi2622.
DisGeNETi2622.
GeneCardsiGAS8.
H-InvDBHIX0202326.
HGNCiHGNC:4166. GAS8.
HPAiHPA041311.
HPA048238.
MIMi605178. gene.
616726. phenotype.
neXtProtiNX_O95995.
OpenTargetsiENSG00000141013.
ENSG00000283182.
PharmGKBiPA28579.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE2T. Eukaryota.
ENOG410XPBD. LUCA.
GeneTreeiENSGT00390000009477.
HOGENOMiHOG000038763.
HOVERGENiHBG039458.
InParanoidiO95995.
KOiK19942.
OMAiEHRTQEG.
OrthoDBiEOG091G0851.
PhylomeDBiO95995.
TreeFamiTF323819.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141013-MONOMER.
ReactomeiR-HSA-5635838. Activation of SMO.

Miscellaneous databases

ChiTaRSiGAS8. human.
GenomeRNAii2622.
PROiO95995.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141013.
CleanExiHS_GAS8.
ExpressionAtlasiO95995. baseline and differential.
GenevisibleiO95995. HS.

Family and domain databases

InterProiIPR025593. GAS8.
[Graphical view]
PfamiPF13851. GAS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGAS8_HUMAN
AccessioniPrimary (citable) accession number: O95995
Secondary accession number(s): B2RCT1
, B7Z4U1, G3V1L5, Q2M234
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 122 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 16
    Human chromosome 16: 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.