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Protein

Coiled-coil domain-containing protein 42A

Gene

CCDC42

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 42A
Gene namesi
Name:CCDC42
Synonyms:CCDC42A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26528. CCDC42.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672159.

Polymorphism and mutation databases

BioMutaiCCDC42.
DMDMi97045403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 316316Coiled-coil domain-containing protein 42APRO_0000234498Add
BLAST

Proteomic databases

EPDiQ96M95.
PaxDbiQ96M95.
PRIDEiQ96M95.

PTM databases

iPTMnetiQ96M95.
PhosphoSiteiQ96M95.

Expressioni

Gene expression databases

BgeeiQ96M95.
CleanExiHS_CCDC42.
ExpressionAtlasiQ96M95. baseline and differential.
GenevisibleiQ96M95. HS.

Organism-specific databases

HPAiHPA024349.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MID2Q9UJV3-23EBI-747041,EBI-10172526
TFIP11Q9UBB93EBI-747041,EBI-1105213

Protein-protein interaction databases

BioGridi127015. 4 interactions.
IntActiQ96M95. 3 interactions.
MINTiMINT-1444519.
STRINGi9606.ENSP00000293845.

Structurei

3D structure databases

ProteinModelPortaliQ96M95.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili39 – 146108Sequence analysisAdd
BLAST
Coiled coili178 – 23255Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC42 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IF8G. Eukaryota.
ENOG4111NGK. LUCA.
GeneTreeiENSGT00390000018178.
HOGENOMiHOG000067751.
HOVERGENiHBG058037.
InParanoidiQ96M95.
OMAiFKDSIGE.
PhylomeDBiQ96M95.
TreeFamiTF327270.

Family and domain databases

InterProiIPR025252. DUF4200.
[Graphical view]
PfamiPF13863. DUF4200. 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: Q96M95-1) [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
MSLGIMEEED LAEYFRLQYG ERLLQMLQKL PNVEGASESP SIWLLEKKKE
60 70 80 90 100
TEIMHQTMVQ KKKMFQRRME TLNLRWEELG VKEAQLKAHI QKSEQFIQEN
110 120 130 140 150
DQKRIRAMKK ANKERELKCQ HMQELTKRKQ EMVALRLEHQ RLSAKLKDYY
160 170 180 190 200
IFNKYLEKVV ENSEFEEIHE VIARYKTLVS MRHDLMQSAQ EGQEKIERAK
210 220 230 240 250
ARLARYMEEK DDEILQQNNE LARLQMRFDR ARSNVIFWES RWAHIQNTAA
260 270 280 290 300
KKTLLLGTIK MATLNLFQIV SKHLKEVTEV ALEDTHKQLD MIQQFIQDRS
310
DIWAEVKKKE QQRVRI
Length:316
Mass (Da):38,019
Last modified:May 16, 2006 - v2
Checksum:i6644F815765ACB89
GO
Isoform 2 (identifier: Q96M95-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-238: Missing.

Note: No experimental confirmation available.
Show »
Length:242
Mass (Da):29,026
Checksum:i80887CF7812AD8B5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401P → L in BAB71414 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511T → P.
Corresponds to variant rs12952995 [ dbSNP | Ensembl ].
VAR_057786
Natural varianti75 – 751R → C.
Corresponds to variant rs9893451 [ dbSNP | Ensembl ].
VAR_057787
Natural varianti144 – 1441A → T.
Corresponds to variant rs2288156 [ dbSNP | Ensembl ].
VAR_026282

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei165 – 23874Missing in isoform 2. 1 PublicationVSP_055651Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057296 mRNA. Translation: BAB71414.1.
BC029224 mRNA. Translation: AAH29224.1.
CCDSiCCDS11145.1. [Q96M95-1]
CCDS54088.1. [Q96M95-2]
RefSeqiNP_001151733.1. NM_001158261.1. [Q96M95-2]
NP_653282.2. NM_144681.2. [Q96M95-1]
UniGeneiHs.121438.

Genome annotation databases

EnsembliENST00000293845; ENSP00000293845; ENSG00000161973. [Q96M95-1]
ENST00000539522; ENSP00000444359; ENSG00000161973. [Q96M95-2]
GeneIDi146849.
KEGGihsa:146849.
UCSCiuc002gln.4. human. [Q96M95-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057296 mRNA. Translation: BAB71414.1.
BC029224 mRNA. Translation: AAH29224.1.
CCDSiCCDS11145.1. [Q96M95-1]
CCDS54088.1. [Q96M95-2]
RefSeqiNP_001151733.1. NM_001158261.1. [Q96M95-2]
NP_653282.2. NM_144681.2. [Q96M95-1]
UniGeneiHs.121438.

3D structure databases

ProteinModelPortaliQ96M95.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127015. 4 interactions.
IntActiQ96M95. 3 interactions.
MINTiMINT-1444519.
STRINGi9606.ENSP00000293845.

PTM databases

iPTMnetiQ96M95.
PhosphoSiteiQ96M95.

Polymorphism and mutation databases

BioMutaiCCDC42.
DMDMi97045403.

Proteomic databases

EPDiQ96M95.
PaxDbiQ96M95.
PRIDEiQ96M95.

Protocols and materials databases

DNASUi146849.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293845; ENSP00000293845; ENSG00000161973. [Q96M95-1]
ENST00000539522; ENSP00000444359; ENSG00000161973. [Q96M95-2]
GeneIDi146849.
KEGGihsa:146849.
UCSCiuc002gln.4. human. [Q96M95-1]

Organism-specific databases

CTDi146849.
GeneCardsiCCDC42.
HGNCiHGNC:26528. CCDC42.
HPAiHPA024349.
neXtProtiNX_Q96M95.
PharmGKBiPA142672159.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF8G. Eukaryota.
ENOG4111NGK. LUCA.
GeneTreeiENSGT00390000018178.
HOGENOMiHOG000067751.
HOVERGENiHBG058037.
InParanoidiQ96M95.
OMAiFKDSIGE.
PhylomeDBiQ96M95.
TreeFamiTF327270.

Miscellaneous databases

GenomeRNAii146849.
PROiQ96M95.

Gene expression databases

BgeeiQ96M95.
CleanExiHS_CCDC42.
ExpressionAtlasiQ96M95. baseline and differential.
GenevisibleiQ96M95. HS.

Family and domain databases

InterProiIPR025252. DUF4200.
[Graphical view]
PfamiPF13863. DUF4200. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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).
    Tissue: Testis.
  2. "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 2).
    Tissue: Brain.

Entry informationi

Entry nameiCCD42_HUMAN
AccessioniPrimary (citable) accession number: Q96M95
Secondary accession number(s): Q8N6Q0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: June 8, 2016
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 17
    Human chromosome 17: 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

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.