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Protein

Protein Njmu-R1

Gene

C17orf75

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

Functioni

As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis.1 Publication

GO - Biological processi

  • intracellular protein transport Source: UniProtKB
  • vesicle tethering to Golgi Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Njmu-R1
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108666.9
HGNCiHGNC:30173 C17orf75
neXtProtiNX_Q9HAS0

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

Cytoplasmic vesicle, Golgi apparatus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000108666
PharmGKBiPA142672223

Polymorphism and mutation databases

BioMutaiC17orf75
DMDMi114152850

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000968651 – 396Protein Njmu-R1Add BLAST396

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei18PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HAS0
MaxQBiQ9HAS0
PaxDbiQ9HAS0
PeptideAtlasiQ9HAS0
PRIDEiQ9HAS0
ProteomicsDBi81423

PTM databases

iPTMnetiQ9HAS0
PhosphoSitePlusiQ9HAS0

Expressioni

Tissue specificityi

Highly expressed in testis and also expressed in fetal testis.

Gene expression databases

BgeeiENSG00000108666 Expressed in 200 organ(s), highest expression level in female gonad
CleanExiHS_C17orf75
ExpressionAtlasiQ9HAS0 baseline and differential
GenevisibleiQ9HAS0 HS

Organism-specific databases

HPAiHPA004061

Interactioni

Subunit structurei

Component of the complex WDR11 composed of C17orf75, FAM91A1 and WDR11; FAM91A1 and WDR11 are required for proper location of the complex (PubMed:29426865). Interacts with TBC1D23; this interaction may be indirect and recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865).2 Publications

Protein-protein interaction databases

BioGridi122087, 20 interactors
IntActiQ9HAS0, 4 interactors
STRINGi9606.ENSP00000225805

Structurei

3D structure databases

ProteinModelPortaliQ9HAS0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IH4D Eukaryota
ENOG410Z836 LUCA
GeneTreeiENSGT00390000005481
HOGENOMiHOG000113790
HOVERGENiHBG006503
InParanoidiQ9HAS0
PhylomeDBiQ9HAS0
TreeFamiTF330763

Family and domain databases

InterProiView protein in InterPro
IPR028280 Njmu-R1
PANTHERiPTHR14416 PTHR14416, 1 hit
PfamiView protein in Pfam
PF15053 Njmu-R1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q9HAS0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLPSLQESMD GDEKELESSE EGGSAEERRL EPPSSSHYCL YSYRGSRLAQ
60 70 80 90 100
QRGDSEDGSP SGTNAETPSG DDFSLSLADT NLPSEVEPEL RSFIAKRLSR
110 120 130 140 150
GAVFEGLGNV ASVELKIPGY RVGCYYCLFQ NEKLLPETVT IDSERNPSEY
160 170 180 190 200
VVCFLGGSEK GLELFRLELD KYIQGLKNNM NCEARGLESH IKSYLSSWFE
210 220 230 240 250
DVVCPIQRVV LLFQEKLTFL LHAALSYTPV EVKESDEKTK RDINRFLSVA
260 270 280 290 300
SLQGLIHEGT MTSLCMAMTE EQHKSVVIDC SSSQPQFCNA GSNRFCEDWM
310 320 330 340 350
QAFLNGAKGG NPFLFRQVLE NFKLKAIQDT NNLKRFIRQA EMNHYALFKC
360 370 380 390
YMFLKNCGSG DILLKIVKVE HEEMPEAKNV IAVLEEFMKE ALDQSF
Length:396
Mass (Da):44,622
Last modified:September 5, 2006 - v2
Checksum:i7789DF3685170DB0
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KT97J3KT97_HUMAN
Protein Njmu-R1
C17orf75
97Annotation score:
J9JIC5J9JIC5_HUMAN
Protein Njmu-R1
C17orf75
396Annotation score:
J3QKQ1J3QKQ1_HUMAN
Protein Njmu-R1
C17orf75
75Annotation score:
J3KRR1J3KRR1_HUMAN
Protein Njmu-R1
C17orf75
275Annotation score:
K7EII1K7EII1_HUMAN
Protein Njmu-R1
C17orf75
132Annotation score:
K7EIQ2K7EIQ2_HUMAN
Protein Njmu-R1
C17orf75
88Annotation score:
K7ERX0K7ERX0_HUMAN
Protein Njmu-R1
C17orf75
37Annotation score:
J3QRW7J3QRW7_HUMAN
Protein Njmu-R1
C17orf75
48Annotation score:

Sequence cautioni

The sequence AAG23214 differs from that shown. Reason: Frameshift at position 362.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti314L → F in AAG23214 (Ref. 1) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF305686 mRNA Translation: AAG23214.1 Frameshift.
BC026017 mRNA Translation: AAH26017.1
BC035715 mRNA Translation: AAH35715.1
BC047325 mRNA Translation: AAH47325.1
BC054035 mRNA Translation: AAH54035.1
CCDSiCCDS58537.1
RefSeqiNP_071739.2, NM_022344.3
UniGeneiHs.655257

Genome annotation databases

EnsembliENST00000577809; ENSP00000464275; ENSG00000108666
GeneIDi64149
KEGGihsa:64149
UCSCiuc002hhg.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF305686 mRNA Translation: AAG23214.1 Frameshift.
BC026017 mRNA Translation: AAH26017.1
BC035715 mRNA Translation: AAH35715.1
BC047325 mRNA Translation: AAH47325.1
BC054035 mRNA Translation: AAH54035.1
CCDSiCCDS58537.1
RefSeqiNP_071739.2, NM_022344.3
UniGeneiHs.655257

3D structure databases

ProteinModelPortaliQ9HAS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122087, 20 interactors
IntActiQ9HAS0, 4 interactors
STRINGi9606.ENSP00000225805

PTM databases

iPTMnetiQ9HAS0
PhosphoSitePlusiQ9HAS0

Polymorphism and mutation databases

BioMutaiC17orf75
DMDMi114152850

Proteomic databases

EPDiQ9HAS0
MaxQBiQ9HAS0
PaxDbiQ9HAS0
PeptideAtlasiQ9HAS0
PRIDEiQ9HAS0
ProteomicsDBi81423

Protocols and materials databases

DNASUi64149
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000577809; ENSP00000464275; ENSG00000108666
GeneIDi64149
KEGGihsa:64149
UCSCiuc002hhg.4 human

Organism-specific databases

CTDi64149
EuPathDBiHostDB:ENSG00000108666.9
GeneCardsiC17orf75
HGNCiHGNC:30173 C17orf75
HPAiHPA004061
neXtProtiNX_Q9HAS0
OpenTargetsiENSG00000108666
PharmGKBiPA142672223
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH4D Eukaryota
ENOG410Z836 LUCA
GeneTreeiENSGT00390000005481
HOGENOMiHOG000113790
HOVERGENiHBG006503
InParanoidiQ9HAS0
PhylomeDBiQ9HAS0
TreeFamiTF330763

Miscellaneous databases

GenomeRNAii64149
PROiPR:Q9HAS0

Gene expression databases

BgeeiENSG00000108666 Expressed in 200 organ(s), highest expression level in female gonad
CleanExiHS_C17orf75
ExpressionAtlasiQ9HAS0 baseline and differential
GenevisibleiQ9HAS0 HS

Family and domain databases

InterProiView protein in InterPro
IPR028280 Njmu-R1
PANTHERiPTHR14416 PTHR14416, 1 hit
PfamiView protein in Pfam
PF15053 Njmu-R1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNJMU_HUMAN
AccessioniPrimary (citable) accession number: Q9HAS0
Secondary accession number(s): Q7Z2H4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 4, 2001
Last sequence update: September 5, 2006
Last modified: November 7, 2018
This is version 109 of the entry and version 2 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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