CC172_HUMAN
ID CC172_HUMAN Reviewed; 258 AA.
AC P0C7W6;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Coiled-coil domain-containing protein 172;
GN Name=CCDC172; Synonyms=C10orf96;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: May interact with TEKT2. {ECO:0000250|UniProtKB:Q810N9}.
CC -!- INTERACTION:
CC P0C7W6; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-2548868, EBI-739879;
CC P0C7W6; Q13561: DCTN2; NbExp=4; IntAct=EBI-2548868, EBI-715074;
CC P0C7W6; Q8NE31: FAM13C; NbExp=5; IntAct=EBI-2548868, EBI-751248;
CC P0C7W6; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-2548868, EBI-7225287;
CC P0C7W6; Q8N4P3: HDDC3; NbExp=4; IntAct=EBI-2548868, EBI-750003;
CC P0C7W6; Q9H1K1: ISCU; NbExp=3; IntAct=EBI-2548868, EBI-1047335;
CC P0C7W6; Q9Y3B7: MRPL11; NbExp=3; IntAct=EBI-2548868, EBI-5453723;
CC P0C7W6; A6NI15: MSGN1; NbExp=3; IntAct=EBI-2548868, EBI-11991020;
CC P0C7W6; P07196: NEFL; NbExp=3; IntAct=EBI-2548868, EBI-475646;
CC P0C7W6; Q9Y5F1: PCDHB12; NbExp=3; IntAct=EBI-2548868, EBI-12012016;
CC P0C7W6; P54646: PRKAA2; NbExp=3; IntAct=EBI-2548868, EBI-1383852;
CC P0C7W6; A0A0S2Z528: PSTPIP1; NbExp=3; IntAct=EBI-2548868, EBI-16430249;
CC P0C7W6; Q9H788: SH2D4A; NbExp=3; IntAct=EBI-2548868, EBI-747035;
CC P0C7W6; Q969G3: SMARCE1; NbExp=4; IntAct=EBI-2548868, EBI-455078;
CC P0C7W6; Q9BT92: TCHP; NbExp=7; IntAct=EBI-2548868, EBI-740781;
CC P0C7W6; D3DUQ6: TEAD4; NbExp=3; IntAct=EBI-2548868, EBI-10176734;
CC P0C7W6; Q15561: TEAD4; NbExp=3; IntAct=EBI-2548868, EBI-747736;
CC P0C7W6; O14530: TXNDC9; NbExp=3; IntAct=EBI-2548868, EBI-707554;
CC P0C7W6; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-2548868, EBI-9031083;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q810N9}. Cell
CC projection, cilium {ECO:0000250|UniProtKB:Q6AXT4}. Note=In spermatozoa,
CC localized in the middle piece, predominantly concentrated at the
CC mitochondrial sheath of the flagella and to a lesser extent with outer
CC dense fibers (ODF) (By similarity). Colocalized with TEKT2 at the
CC perinuclear region (By similarity). {ECO:0000250|UniProtKB:Q6AXT4,
CC ECO:0000250|UniProtKB:Q810N9}.
CC -!- SIMILARITY: Belongs to the CCDC172 family. {ECO:0000305}.
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DR EMBL; AC011328; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044830; AAH44830.1; -; mRNA.
DR CCDS; CCDS31291.1; -.
DR RefSeq; NP_940917.1; NM_198515.2.
DR RefSeq; XP_016871695.1; XM_017016206.1.
DR AlphaFoldDB; P0C7W6; -.
DR SMR; P0C7W6; -.
DR BioGRID; 131893; 29.
DR IntAct; P0C7W6; 30.
DR MINT; P0C7W6; -.
DR STRING; 9606.ENSP00000329860; -.
DR iPTMnet; P0C7W6; -.
DR PhosphoSitePlus; P0C7W6; -.
DR BioMuta; CCDC172; -.
DR DMDM; 206557852; -.
DR EPD; P0C7W6; -.
DR MassIVE; P0C7W6; -.
DR MaxQB; P0C7W6; -.
DR PaxDb; P0C7W6; -.
DR PeptideAtlas; P0C7W6; -.
DR PRIDE; P0C7W6; -.
DR ProteomicsDB; 52381; -.
DR Antibodypedia; 46242; 46 antibodies from 10 providers.
DR DNASU; 374355; -.
DR Ensembl; ENST00000333254.4; ENSP00000329860.3; ENSG00000182645.6.
DR GeneID; 374355; -.
DR KEGG; hsa:374355; -.
DR MANE-Select; ENST00000333254.4; ENSP00000329860.3; NM_198515.3; NP_940917.1.
DR UCSC; uc001lck.3; human.
DR CTD; 374355; -.
DR GeneCards; CCDC172; -.
DR HGNC; HGNC:30524; CCDC172.
DR HPA; ENSG00000182645; Group enriched (retina, testis).
DR neXtProt; NX_P0C7W6; -.
DR OpenTargets; ENSG00000182645; -.
DR PharmGKB; PA134867240; -.
DR VEuPathDB; HostDB:ENSG00000182645; -.
DR eggNOG; ENOG502RZCX; Eukaryota.
DR GeneTree; ENSGT00390000005203; -.
DR HOGENOM; CLU_094609_0_0_1; -.
DR InParanoid; P0C7W6; -.
DR OMA; LEMHKEG; -.
DR OrthoDB; 1399070at2759; -.
DR PhylomeDB; P0C7W6; -.
DR TreeFam; TF333231; -.
DR PathwayCommons; P0C7W6; -.
DR SignaLink; P0C7W6; -.
DR BioGRID-ORCS; 374355; 21 hits in 1063 CRISPR screens.
DR ChiTaRS; CCDC172; human.
DR GenomeRNAi; 374355; -.
DR Pharos; P0C7W6; Tdark.
DR PRO; PR:P0C7W6; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P0C7W6; protein.
DR Bgee; ENSG00000182645; Expressed in right testis and 38 other tissues.
DR Genevisible; P0C7W6; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR InterPro; IPR029618; CCDC172.
DR PANTHER; PTHR22419; PTHR22419; 1.
PE 1: Evidence at protein level;
KW Cell projection; Coiled coil; Cytoplasm; Reference proteome.
FT CHAIN 1..258
FT /note="Coiled-coil domain-containing protein 172"
FT /id="PRO_0000344513"
FT COILED 13..90
FT /evidence="ECO:0000255"
FT COILED 123..191
FT /evidence="ECO:0000255"
FT COILED 226..256
FT /evidence="ECO:0000255"
SQ SEQUENCE 258 AA; 31035 MW; 9CFC9C42B13486B3 CRC64;
MSLESLFQHI IFTEHQAEES RRLMREVRSE ITRCREKIKK ATEELNEEKI KLESKVQQFF
EKSFFLQLLK AHENALEKQY SEITNHRNML LQTFEAIKKQ MIEEEDKFIK EITDFNNDYE
ITKKRELLMK ENVKIEISDL ENQANMLKSE MKSMEHDSSQ LNELQKQKSE LIQELFTLQR
KLKVFEDEEN ESICTTKYLE AEKIKISEKP QNDTECLRLK KELELYKEDD MESVYEALQT
EIEFLELTLA QKDLQESK