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Protein

Cilia- and flagella-associated protein 77

Gene

CFAP77

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

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 77Curated
Gene namesi
Name:CFAP77Imported
Synonyms:C9orf171Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000188523.8
HGNCiHGNC:33776 CFAP77
neXtProtiNX_Q6ZQR2

Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000188523
PharmGKBiPA164717530

Polymorphism and mutation databases

BioMutaiC9orf171
DMDMi74710954

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003259731 – 320Cilia- and flagella-associated protein 77Add BLAST320

Proteomic databases

PaxDbiQ6ZQR2
PeptideAtlasiQ6ZQR2
PRIDEiQ6ZQR2
ProteomicsDBi68087
68088 [Q6ZQR2-2]

PTM databases

iPTMnetiQ6ZQR2
PhosphoSitePlusiQ6ZQR2

Expressioni

Gene expression databases

BgeeiENSG00000188523
ExpressionAtlasiQ6ZQR2 baseline and differential

Organism-specific databases

HPAiHPA021329
HPA024647
HPA061069

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF4P158843EBI-10255140,EBI-533224

Protein-protein interaction databases

BioGridi133276, 2 interactors
IntActiQ6ZQR2, 1 interactor
STRINGi9606.ENSP00000343290

Structurei

3D structure databases

ProteinModelPortaliQ6ZQR2
SMRiQ6ZQR2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CFAP77 family.Curated

Phylogenomic databases

eggNOGiENOG410IM44 Eukaryota
ENOG4111I1W LUCA
GeneTreeiENSGT00390000014476
HOGENOMiHOG000230914
InParanoidiQ6ZQR2
OMAiHFQKVGP
OrthoDBiEOG091G0KEC
PhylomeDBiQ6ZQR2
TreeFamiTF329723

Family and domain databases

InterProiView protein in InterPro
IPR029147 CFAP77
PANTHERiPTHR28617 PTHR28617, 1 hit
PfamiView protein in Pfam
PF14825 DUF4483, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6ZQR2-1) [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
MPEARSSGPD LTRWRKQQQP VRRTVSQVCP PPRRPLTVAD IRSGMENERL
60 70 80 90 100
GVVRDSMFQN PLIVKAAGPA SVGTSYSVYD SSAVQKVIPS LAGHHIKGGP
110 120 130 140 150
QAELGKPRER SYSLPGINFN YGLYIRGLDG GVPEAIGRWN VFKQQPTCPH
160 170 180 190 200
ELTRNYIAMN RGAVKAGLVT ARENLLYRQL NDIRISDQDD RRMKKEPPPL
210 220 230 240 250
PPNMTFGIRA RPSTPFFDLL QHRYLQLWVQ EQKATQKAIK LEKKQKVVLG
260 270 280 290 300
KLYETRSSQL RKYKPPVKLD TLWHMPHFQK VGRHLDTFPT EADRQRALKA
310 320
HREECAVRQG TLRMGNYTHP
Note: No experimental confirmation available.
Length:320
Mass (Da):36,499
Last modified:July 5, 2004 - v1
Checksum:i1625636B9E0E8385
GO
Isoform 2 (identifier: Q6ZQR2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-102: Missing.

Note: No experimental confirmation available.
Show »
Length:284
Mass (Da):32,979
Checksum:i0DCDBA47F376852A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039959137G → R. Corresponds to variant dbSNP:rs7047726Ensembl.1
Natural variantiVAR_039960172R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149346027Ensembl.1
Natural variantiVAR_039961184R → H. Corresponds to variant dbSNP:rs11243798Ensembl.1
Natural variantiVAR_062164244K → Q. Corresponds to variant dbSNP:rs34650498Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03250767 – 102Missing in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128819 mRNA Translation: BAC87621.1
AL353701 Genomic DNA No translation available.
AL354735 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88003.1
CH471090 Genomic DNA Translation: EAW88004.1
BC118593 mRNA Translation: AAI18594.1
BC124555 mRNA Translation: AAI24556.1
CCDSiCCDS65167.1 [Q6ZQR2-2]
CCDS6949.1 [Q6ZQR2-1]
RefSeqiNP_001269886.1, NM_001282957.1 [Q6ZQR2-2]
NP_997300.1, NM_207417.2 [Q6ZQR2-1]
UniGeneiHs.201709

Genome annotation databases

EnsembliENST00000343036; ENSP00000343290; ENSG00000188523 [Q6ZQR2-1]
ENST00000393216; ENSP00000376909; ENSG00000188523 [Q6ZQR2-2]
GeneIDi389799
KEGGihsa:389799
UCSCiuc004cbn.5 human [Q6ZQR2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCFA77_HUMAN
AccessioniPrimary (citable) accession number: Q6ZQR2
Secondary accession number(s): Q147X1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 96 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. Human chromosome 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

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