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Protein

RAB6-interacting golgin

Gene

GORAB

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

Functioni

Caution

It is uncertain whether Met-1 or Met-26 is the initiator.Curated

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
RAB6-interacting golgin
Alternative name(s):
N-terminal kinase-like-binding protein 1
Short name:
NTKL-BP1
Short name:
NTKL-binding protein 1
Short name:
hNTKL-BP1
SCY1-like 1-binding protein 1
Short name:
SCYL1-BP1
Short name:
SCYL1-binding protein 1
Gene namesi
Name:GORAB
Synonyms:NTKLBP1, SCYL1BP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000120370.12
HGNCiHGNC:25676 GORAB
MIMi607983 gene
neXtProtiNX_Q5T7V8

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

Cytoplasm, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Geroderma osteodysplasticum (GO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.
See also OMIM:231070

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi92344
MalaCardsiGORAB
MIMi231070 phenotype
OpenTargetsiENSG00000120370
Orphaneti2078 Geroderma osteodysplastica
PharmGKBiPA164720285

Polymorphism and mutation databases

BioMutaiGORAB
DMDMi74745442

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524441 – 394RAB6-interacting golginAdd BLAST394

Proteomic databases

EPDiQ5T7V8
MaxQBiQ5T7V8
PaxDbiQ5T7V8
PeptideAtlasiQ5T7V8
PRIDEiQ5T7V8
ProteomicsDBi64687
64688 [Q5T7V8-2]
64689 [Q5T7V8-3]
64690 [Q5T7V8-4]

PTM databases

iPTMnetiQ5T7V8
PhosphoSitePlusiQ5T7V8

Expressioni

Gene expression databases

BgeeiENSG00000120370 Expressed in 189 organ(s), highest expression level in testis
CleanExiHS_SCYL1BP1
ExpressionAtlasiQ5T7V8 baseline and differential
GenevisibleiQ5T7V8 HS

Organism-specific databases

HPAiHPA027208
HPA027250

Interactioni

Subunit structurei

Interacts with SCYL1 (By similarity). Interacts with RCHY1 and RAB6A/RAB6.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MDM2Q009876EBI-3917143,EBI-389668

Protein-protein interaction databases

BioGridi124937, 19 interactors
IntActiQ5T7V8, 59 interactors
MINTiQ5T7V8
STRINGi9606.ENSP00000356737

Structurei

3D structure databases

ProteinModelPortaliQ5T7V8
SMRiQ5T7V8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni213 – 394Necessary for interaction with RCHY11 PublicationAdd BLAST182

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili170 – 322Sequence analysisAdd BLAST153

Sequence similaritiesi

Belongs to the GORAB family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJC7 Eukaryota
ENOG4111VTM LUCA
GeneTreeiENSGT00390000014886
HOGENOMiHOG000112758
InParanoidiQ5T7V8
KOiK19748
OMAiMKLKRIQ
OrthoDBiEOG091G0NTU
PhylomeDBiQ5T7V8
TreeFamiTF324839

Family and domain databases

InterProiView protein in InterPro
IPR007033 GORAB
PANTHERiPTHR21470 PTHR21470, 1 hit
PfamiView protein in Pfam
PF04949 Transcrip_act, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T7V8-1) [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
MSWAAVLAVA AARFGHFWGC RWPGPMAQGW AGFSEEELRR LKQTKDPFEP
60 70 80 90 100
QRRLPAKKSR QQLQREKALV EQSQKLGLQD GSTSLLPEQL LSAPKQRVNV
110 120 130 140 150
QKPPFSSPTL PSHFTLTSPV GDGQPQGIES QPKELGLENS HDGHNNVEIL
160 170 180 190 200
PPKPDCKLEK KKVELQEKSR WEVLQQEQRL MEEKNKRKKA LLAKAIAERS
210 220 230 240 250
KRTQAETMKL KRIQKELQAL DDMVSADIGI LRNRIDQASL DYSYARKRFD
260 270 280 290 300
RAEAEYIAAK LDIQRKTEIK EQLTEHLCTI IQQNELRKAK KLEELMQQLD
310 320 330 340 350
VEADEETLEL EVEVERLLHE QEVESRRPVV RLERPFQPAE ESVTLEFAKE
360 370 380 390
NRKCQEQAVS PKVDDQCGNS SSIPFLSPNC PNQEGNDISA ALAT
Length:394
Mass (Da):44,993
Last modified:December 21, 2004 - v1
Checksum:i056A2F7386D3B372
GO
Isoform 2 (identifier: Q5T7V8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     247-394: Missing.

Show »
Length:246
Mass (Da):27,992
Checksum:i19FAA47220C97C44
GO
Isoform 3 (identifier: Q5T7V8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Show »
Length:187
Mass (Da):21,540
Checksum:iEA62D736AA030AAA
GO
Isoform 4 (identifier: Q5T7V8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-180: Missing.

Show »
Length:214
Mass (Da):24,652
Checksum:iCEB00CBCE486A00D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GMT2R4GMT2_HUMAN
RAB6-interacting golgin
GORAB
126Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti228I → T in BAB13903 (PubMed:14702039).Curated1
Sequence conflicti293E → G in AAH47476 (PubMed:15489334).Curated1
Sequence conflicti316R → G in BAB13903 (PubMed:14702039).Curated1
Sequence conflicti379N → D in AAD32702 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027867320E → K1 PublicationCorresponds to variant dbSNP:rs913257EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0209761 – 207Missing in isoform 3. 1 PublicationAdd BLAST207
Alternative sequenceiVSP_0209771 – 180Missing in isoform 4. 1 PublicationAdd BLAST180
Alternative sequenceiVSP_020978247 – 394Missing in isoform 2. 1 PublicationAdd BLAST148

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF143889 mRNA Translation: AAD32702.1
AK021814 mRNA Translation: BAB13903.1
AL162399 Genomic DNA No translation available.
BC047476 mRNA Translation: AAH47476.1
BC064945 mRNA Translation: AAH64945.1
CCDSiCCDS1289.1 [Q5T7V8-1]
CCDS53428.1 [Q5T7V8-2]
RefSeqiNP_001139511.1, NM_001146039.1 [Q5T7V8-2]
NP_001307181.1, NM_001320252.1 [Q5T7V8-4]
NP_689494.2, NM_152281.2 [Q5T7V8-1]
XP_006711691.1, XM_006711628.3 [Q5T7V8-4]
XP_011508452.1, XM_011510150.2 [Q5T7V8-4]
XP_011508453.1, XM_011510151.1 [Q5T7V8-4]
XP_016858296.1, XM_017002807.1 [Q5T7V8-4]
UniGeneiHs.183702

Genome annotation databases

EnsembliENST00000367762; ENSP00000356736; ENSG00000120370 [Q5T7V8-2]
ENST00000367763; ENSP00000356737; ENSG00000120370 [Q5T7V8-1]
GeneIDi92344
KEGGihsa:92344
UCSCiuc001ggz.5 human [Q5T7V8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF143889 mRNA Translation: AAD32702.1
AK021814 mRNA Translation: BAB13903.1
AL162399 Genomic DNA No translation available.
BC047476 mRNA Translation: AAH47476.1
BC064945 mRNA Translation: AAH64945.1
CCDSiCCDS1289.1 [Q5T7V8-1]
CCDS53428.1 [Q5T7V8-2]
RefSeqiNP_001139511.1, NM_001146039.1 [Q5T7V8-2]
NP_001307181.1, NM_001320252.1 [Q5T7V8-4]
NP_689494.2, NM_152281.2 [Q5T7V8-1]
XP_006711691.1, XM_006711628.3 [Q5T7V8-4]
XP_011508452.1, XM_011510150.2 [Q5T7V8-4]
XP_011508453.1, XM_011510151.1 [Q5T7V8-4]
XP_016858296.1, XM_017002807.1 [Q5T7V8-4]
UniGeneiHs.183702

3D structure databases

ProteinModelPortaliQ5T7V8
SMRiQ5T7V8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124937, 19 interactors
IntActiQ5T7V8, 59 interactors
MINTiQ5T7V8
STRINGi9606.ENSP00000356737

PTM databases

iPTMnetiQ5T7V8
PhosphoSitePlusiQ5T7V8

Polymorphism and mutation databases

BioMutaiGORAB
DMDMi74745442

Proteomic databases

EPDiQ5T7V8
MaxQBiQ5T7V8
PaxDbiQ5T7V8
PeptideAtlasiQ5T7V8
PRIDEiQ5T7V8
ProteomicsDBi64687
64688 [Q5T7V8-2]
64689 [Q5T7V8-3]
64690 [Q5T7V8-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367762; ENSP00000356736; ENSG00000120370 [Q5T7V8-2]
ENST00000367763; ENSP00000356737; ENSG00000120370 [Q5T7V8-1]
GeneIDi92344
KEGGihsa:92344
UCSCiuc001ggz.5 human [Q5T7V8-1]

Organism-specific databases

CTDi92344
DisGeNETi92344
EuPathDBiHostDB:ENSG00000120370.12
GeneCardsiGORAB
HGNCiHGNC:25676 GORAB
HPAiHPA027208
HPA027250
MalaCardsiGORAB
MIMi231070 phenotype
607983 gene
neXtProtiNX_Q5T7V8
OpenTargetsiENSG00000120370
Orphaneti2078 Geroderma osteodysplastica
PharmGKBiPA164720285
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJC7 Eukaryota
ENOG4111VTM LUCA
GeneTreeiENSGT00390000014886
HOGENOMiHOG000112758
InParanoidiQ5T7V8
KOiK19748
OMAiMKLKRIQ
OrthoDBiEOG091G0NTU
PhylomeDBiQ5T7V8
TreeFamiTF324839

Miscellaneous databases

ChiTaRSiGORAB human
GenomeRNAii92344
PROiPR:Q5T7V8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120370 Expressed in 189 organ(s), highest expression level in testis
CleanExiHS_SCYL1BP1
ExpressionAtlasiQ5T7V8 baseline and differential
GenevisibleiQ5T7V8 HS

Family and domain databases

InterProiView protein in InterPro
IPR007033 GORAB
PANTHERiPTHR21470 PTHR21470, 1 hit
PfamiView protein in Pfam
PF04949 Transcrip_act, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGORAB_HUMAN
AccessioniPrimary (citable) accession number: Q5T7V8
Secondary accession number(s): Q49A22
, Q6P1P9, Q9HAE6, Q9Y350
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 21, 2004
Last modified: September 12, 2018
This is version 115 of the entry and version 1 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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