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Protein

Cilia- and flagella-associated protein 36

Gene

CFAP36

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May act as an effector for ARL3.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 36Imported
Alternative name(s):
Coiled-coil domain-containing protein 104Imported
Gene namesi
Name:CFAP36
Synonyms:CCDC104
ORF Names:UNQ163/PRO189
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:30540. CFAP36.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008608.

Polymorphism and mutation databases

BioMutaiCCDC104.
DMDMi126215682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 342342Cilia- and flagella-associated protein 36PRO_0000278638Add
BLAST

Proteomic databases

MaxQBiQ96G28.
PaxDbiQ96G28.
PRIDEiQ96G28.

PTM databases

PhosphoSiteiQ96G28.

Miscellaneous databases

PMAP-CutDBQ96G28.

Expressioni

Tissue specificityi

Expressed in several human tissues including brain, testis, heart, lung, pancreas and spleen (at protein level).1 Publication

Gene expression databases

BgeeiQ96G28.
CleanExiHS_CCDC104.
ExpressionAtlasiQ96G28. baseline and differential.
GenevisibleiQ96G28. HS.

Organism-specific databases

HPAiHPA008994.
HPA017061.

Interactioni

Subunit structurei

Interacts with ARL3.1 Publication

Protein-protein interaction databases

BioGridi125218. 4 interactions.
IntActiQ96G28. 3 interactions.
STRINGi9606.ENSP00000295117.

Structurei

3D structure databases

ProteinModelPortaliQ96G28.
SMRiQ96G28. Positions 6-121.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili150 – 18738Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CFAP36 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG321232.
GeneTreeiENSGT00390000012785.
HOGENOMiHOG000007745.
HOVERGENiHBG062543.
InParanoidiQ96G28.
OMAiMTEKPEM.
OrthoDBiEOG7C8GJF.
PhylomeDBiQ96G28.
TreeFamiTF315143.

Family and domain databases

Gene3Di1.20.1520.10. 1 hit.
InterProiIPR023379. ARF-like_2-bdp_dom.
[Graphical view]
PfamiPF11527. ARL2_Bind_BART. 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: Q96G28-1) [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
MAAEEEDEVE WVVESIAGFL RGPDWSIPIL DFVEQKCEVF DDEEESKLTY
60 70 80 90 100
TEIHQEYKEL VEKLLEGYLK EIGINEDQFQ EACTSPLAKT HTSQAILQPV
110 120 130 140 150
LAAEDFTIFK AMMVQKNIEM QLQAIRIIQE RNGVLPDCLT DGSDVVSDLE
160 170 180 190 200
HEEMKILREV LRKSKEEYDQ EEERKRKKQL SEAKTEEPTV HSSEAAIMNN
210 220 230 240 250
SQGDGEHFAH PPSEVKMHFA NQSIEPLGRK VERSETSSLP QKDLKIPGLE
260 270 280 290 300
HASIEGPIAN LSVLGTEELR QREHYLKQKR DKLMSMRKDM RTKQIQNMEQ
310 320 330 340
KGKPTGEVEE MTEKPEMTAE EKQTLLKRRL LAEKLKEEVI NK
Length:342
Mass (Da):39,447
Last modified:February 20, 2007 - v2
Checksum:iC8ACF26FC57DFBD6
GO
Isoform 2 (identifier: Q96G28-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     39-39: V → VNCKGGHVITPGSPEPVILVACVPLV

Show »
Length:367
Mass (Da):41,929
Checksum:i2E0F8C275213CE05
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61E → D.
Corresponds to variant rs34891804 [ dbSNP | Ensembl ].
VAR_050725
Natural varianti243 – 2431D → G.2 Publications
Corresponds to variant rs1045910 [ dbSNP | Ensembl ].
VAR_030795
Natural varianti246 – 2461I → F.1 Publication
Corresponds to variant rs1045920 [ dbSNP | Ensembl ].
VAR_030796

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 391V → VNCKGGHVITPGSPEPVILV ACVPLV in isoform 2. 1 PublicationVSP_023338

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358097 mRNA. Translation: AAQ88464.1.
BC010011 mRNA. Translation: AAH10011.1.
AC019198 Genomic DNA. Translation: AAY14933.1.
AC015982 Genomic DNA. Translation: AAY24269.1.
CCDSiCCDS1854.2. [Q96G28-1]
CCDS62911.1. [Q96G28-2]
RefSeqiNP_001269690.1. NM_001282761.1. [Q96G28-2]
NP_542398.3. NM_080667.6. [Q96G28-1]
UniGeneiHs.264208.

Genome annotation databases

EnsembliENST00000339012; ENSP00000342699; ENSG00000163001. [Q96G28-2]
ENST00000349456; ENSP00000295117; ENSG00000163001. [Q96G28-1]
GeneIDi112942.
KEGGihsa:112942.
UCSCiuc002ryx.2. human. [Q96G28-2]
uc002ryy.2. human. [Q96G28-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358097 mRNA. Translation: AAQ88464.1.
BC010011 mRNA. Translation: AAH10011.1.
AC019198 Genomic DNA. Translation: AAY14933.1.
AC015982 Genomic DNA. Translation: AAY24269.1.
CCDSiCCDS1854.2. [Q96G28-1]
CCDS62911.1. [Q96G28-2]
RefSeqiNP_001269690.1. NM_001282761.1. [Q96G28-2]
NP_542398.3. NM_080667.6. [Q96G28-1]
UniGeneiHs.264208.

3D structure databases

ProteinModelPortaliQ96G28.
SMRiQ96G28. Positions 6-121.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125218. 4 interactions.
IntActiQ96G28. 3 interactions.
STRINGi9606.ENSP00000295117.

PTM databases

PhosphoSiteiQ96G28.

Polymorphism and mutation databases

BioMutaiCCDC104.
DMDMi126215682.

Proteomic databases

MaxQBiQ96G28.
PaxDbiQ96G28.
PRIDEiQ96G28.

Protocols and materials databases

DNASUi112942.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339012; ENSP00000342699; ENSG00000163001. [Q96G28-2]
ENST00000349456; ENSP00000295117; ENSG00000163001. [Q96G28-1]
GeneIDi112942.
KEGGihsa:112942.
UCSCiuc002ryx.2. human. [Q96G28-2]
uc002ryy.2. human. [Q96G28-1]

Organism-specific databases

CTDi112942.
GeneCardsiGC02P055746.
H-InvDBHIX0002064.
HGNCiHGNC:30540. CFAP36.
HPAiHPA008994.
HPA017061.
neXtProtiNX_Q96G28.
PharmGKBiPA145008608.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG321232.
GeneTreeiENSGT00390000012785.
HOGENOMiHOG000007745.
HOVERGENiHBG062543.
InParanoidiQ96G28.
OMAiMTEKPEM.
OrthoDBiEOG7C8GJF.
PhylomeDBiQ96G28.
TreeFamiTF315143.

Miscellaneous databases

ChiTaRSiCCDC104. human.
GenomeRNAii112942.
NextBioi78717.
PMAP-CutDBQ96G28.
PROiQ96G28.

Gene expression databases

BgeeiQ96G28.
CleanExiHS_CCDC104.
ExpressionAtlasiQ96G28. baseline and differential.
GenevisibleiQ96G28. HS.

Family and domain databases

Gene3Di1.20.1520.10. 1 hit.
InterProiIPR023379. ARF-like_2-bdp_dom.
[Graphical view]
PfamiPF11527. ARL2_Bind_BART. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-243.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 1), VARIANTS GLY-243 AND PHE-246.
    Tissue: B-cell.
  4. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo)."
    Totland C., Bredholt G., Haugen M., Haukanes B.I., Vedeler C.A.
    Cancer Immunol. Immunother. 59:231-237(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  6. Cited for: INTERACTION WITH ARL3, POSSIBLE FUNCTION.

Entry informationi

Entry nameiCFA36_HUMAN
AccessioniPrimary (citable) accession number: Q96G28
Secondary accession number(s): Q53SF0, Q53ST9, Q6UY34
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: June 24, 2015
This is version 91 of the entry and version 2 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 2
    Human chromosome 2: 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

External Data

Dasty 3

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 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.