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Protein

RAB6-interacting golgin

Gene

GORAB

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

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

HGNCiHGNC:25676. GORAB.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MalaCardsiGORAB.
MIMi231070. phenotype.
Orphaneti2078. Geroderma osteodysplastica.
PharmGKBiPA164720285.

Polymorphism and mutation databases

BioMutaiGORAB.
DMDMi74745442.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 394394RAB6-interacting golginPRO_0000252444Add
BLAST

Proteomic databases

EPDiQ5T7V8.
MaxQBiQ5T7V8.
PaxDbiQ5T7V8.
PeptideAtlasiQ5T7V8.
PRIDEiQ5T7V8.

PTM databases

iPTMnetiQ5T7V8.
PhosphoSiteiQ5T7V8.

Expressioni

Gene expression databases

BgeeiQ5T7V8.
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 interactions.
IntActiQ5T7V8. 16 interactions.
MINTiMINT-7889952.
STRINGi9606.ENSP00000356737.

Structurei

3D structure databases

ProteinModelPortaliQ5T7V8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni213 – 394182Necessary for interaction with RCHY1Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili170 – 322153Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the GORAB family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJC7. Eukaryota.
ENOG4111VTM. LUCA.
GeneTreeiENSGT00390000014886.
HOGENOMiHOG000112758.
InParanoidiQ5T7V8.
KOiK19748.
OMAiHLTEHLC.
OrthoDBiEOG7RJPT4.
PhylomeDBiQ5T7V8.
TreeFamiTF324839.

Family and domain databases

InterProiIPR007033. GORAB.
[Graphical view]
PANTHERiPTHR21470:SF2. PTHR21470:SF2. 1 hit.
PfamiPF04949. Transcrip_act. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti228 – 2281I → T in BAB13903 (PubMed:14702039).Curated
Sequence conflicti293 – 2931E → G in AAH47476 (PubMed:15489334).Curated
Sequence conflicti316 – 3161R → G in BAB13903 (PubMed:14702039).Curated
Sequence conflicti379 – 3791N → D in AAD32702 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti320 – 3201E → K.1 Publication
Corresponds to variant rs913257 [ dbSNP | Ensembl ].
VAR_027867

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 207207Missing in isoform 3. 1 PublicationVSP_020976Add
BLAST
Alternative sequencei1 – 180180Missing in isoform 4. 1 PublicationVSP_020977Add
BLAST
Alternative sequencei247 – 394148Missing in isoform 2. 1 PublicationVSP_020978Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF143889 mRNA. Translation: AAD32702.1.
AK021814 mRNA. Translation: BAB13903.1.
AL162399 Genomic DNA. Translation: CAI15420.1.
AL162399 Genomic DNA. Translation: CAI15421.1.
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_006711628.2. [Q5T7V8-4]
XP_011508452.1. XM_011510150.1. [Q5T7V8-4]
XP_011508453.1. XM_011510151.1. [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

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. Translation: CAI15420.1.
AL162399 Genomic DNA. Translation: CAI15421.1.
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_006711628.2. [Q5T7V8-4]
XP_011508452.1. XM_011510150.1. [Q5T7V8-4]
XP_011508453.1. XM_011510151.1. [Q5T7V8-4]
UniGeneiHs.183702.

3D structure databases

ProteinModelPortaliQ5T7V8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124937. 19 interactions.
IntActiQ5T7V8. 16 interactions.
MINTiMINT-7889952.
STRINGi9606.ENSP00000356737.

PTM databases

iPTMnetiQ5T7V8.
PhosphoSiteiQ5T7V8.

Polymorphism and mutation databases

BioMutaiGORAB.
DMDMi74745442.

Proteomic databases

EPDiQ5T7V8.
MaxQBiQ5T7V8.
PaxDbiQ5T7V8.
PeptideAtlasiQ5T7V8.
PRIDEiQ5T7V8.

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.
GeneCardsiGORAB.
HGNCiHGNC:25676. GORAB.
HPAiHPA027208.
HPA027250.
MalaCardsiGORAB.
MIMi231070. phenotype.
607983. gene.
neXtProtiNX_Q5T7V8.
Orphaneti2078. Geroderma osteodysplastica.
PharmGKBiPA164720285.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJC7. Eukaryota.
ENOG4111VTM. LUCA.
GeneTreeiENSGT00390000014886.
HOGENOMiHOG000112758.
InParanoidiQ5T7V8.
KOiK19748.
OMAiHLTEHLC.
OrthoDBiEOG7RJPT4.
PhylomeDBiQ5T7V8.
TreeFamiTF324839.

Miscellaneous databases

ChiTaRSiGORAB. human.
GenomeRNAii92344.
PROiQ5T7V8.
SOURCEiSearch...

Gene expression databases

BgeeiQ5T7V8.
CleanExiHS_SCYL1BP1.
ExpressionAtlasiQ5T7V8. baseline and differential.
GenevisibleiQ5T7V8. HS.

Family and domain databases

InterProiIPR007033. GORAB.
[Graphical view]
PANTHERiPTHR21470:SF2. PTHR21470:SF2. 1 hit.
PfamiPF04949. Transcrip_act. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. The European IMAGE consortium
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-320.
    Tissue: Embryo.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORMS 2 AND 4).
    Tissue: Pancreas and Testis.
  5. Cited for: INTERACTION WITH RCHY1, SUBCELLULAR LOCATION.
  6. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH RAB6A, INVOLVEMENT IN GERODERMA OSTEODYSPLASTICUM.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiGORAB_HUMAN
AccessioniPrimary (citable) accession number: Q5T7V8
Secondary accession number(s): Q49A22
, Q6P1P9, Q9HAE6, Q9Y350
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 21, 2004
Last modified: July 6, 2016
This is version 101 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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.