POC1A_HUMAN
ID POC1A_HUMAN Reviewed; 407 AA.
AC Q8NBT0; A4FUW4; E9PFC6; Q0VDF8; Q2TAK6; Q96IK6; Q9UFJ8;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 04-APR-2006, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=POC1 centriolar protein homolog A;
DE AltName: Full=Pix2;
DE AltName: Full=Proteome of centriole protein 1A;
DE AltName: Full=WD repeat-containing protein 51A;
GN Name=POC1A; Synonyms=WDR51A;
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 MRNA] (ISOFORM 1).
RC TISSUE=Retinoblastoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Ovary;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 219-407 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=18068700; DOI=10.1016/j.yexcr.2007.10.019;
RA Hames R.S., Hames R., Prosser S.L., Euteneuer U., Lopes C.A., Moore W.,
RA Woodland H.R., Fry A.M.;
RT "Pix1 and Pix2 are novel WD40 microtubule-associated proteins that
RT colocalize with mitochondria in Xenopus germ plasm and centrosomes in human
RT cells.";
RL Exp. Cell Res. 314:574-589(2008).
RN [7]
RP SUBCELLULAR LOCATION.
RX PubMed=20008567; DOI=10.1083/jcb.200908019;
RA Pearson C.G., Osborn D.P., Giddings T.H. Jr., Beales P.L., Winey M.;
RT "Basal body stability and ciliogenesis requires the conserved component
RT Poc1.";
RL J. Cell Biol. 187:905-920(2009).
RN [8]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=19109428; DOI=10.1091/mbc.e08-06-0619;
RA Keller L.C., Geimer S., Romijn E., Yates J. III, Zamora I., Marshall W.F.;
RT "Molecular architecture of the centriole proteome: the conserved WD40
RT domain protein POC1 is required for centriole duplication and length
RT control.";
RL Mol. Biol. Cell 20:1150-1166(2009).
RN [9]
RP INVOLVEMENT IN SOFT.
RX PubMed=22840364; DOI=10.1016/j.ajhg.2012.05.025;
RA Shaheen R., Faqeih E., Shamseldin H.E., Noche R.R., Sunker A.,
RA Alshammari M.J., Al-Sheddi T., Adly N., Al-Dosari M.S., Megason S.G.,
RA Al-Husain M., Al-Mohanna F., Alkuraya F.S.;
RT "POC1A truncation mutation causes a ciliopathy in humans characterized by
RT primordial dwarfism.";
RL Am. J. Hum. Genet. 91:330-336(2012).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH POC1B.
RX PubMed=23015594; DOI=10.1242/jcs.111203;
RA Venoux M., Tait X., Hames R.S., Straatman K.R., Woodland H.R., Fry A.M.;
RT "Poc1A and Poc1B act together in human cells to ensure centriole
RT integrity.";
RL J. Cell Sci. 126:163-175(2013).
RN [11]
RP VARIANT SOFT PRO-171.
RX PubMed=22840363; DOI=10.1016/j.ajhg.2012.06.003;
RA Sarig O., Nahum S., Rapaport D., Ishida-Yamamoto A., Fuchs-Telem D.,
RA Qiaoli L., Cohen-Katsenelson K., Spiegel R., Nousbeck J., Israeli S.,
RA Borochowitz Z.U., Padalon-Brauch G., Uitto J., Horowitz M., Shalev S.,
RA Sprecher E.;
RT "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
RT syndrome is caused by a POC1A mutation.";
RL Am. J. Hum. Genet. 91:337-342(2012).
CC -!- FUNCTION: Plays an important role in centriole assembly and/or
CC stability and ciliogenesis. Involved in early steps of centriole
CC duplication, as well as in the later steps of centriole length control.
CC Acts in concert with POC1B to ensure centriole integrity and proper
CC mitotic spindle formation. {ECO:0000269|PubMed:19109428,
CC ECO:0000269|PubMed:23015594}.
CC -!- SUBUNIT: Interacts with POC1B. {ECO:0000269|PubMed:23015594}.
CC -!- INTERACTION:
CC Q8NBT0; P54252: ATXN3; NbExp=3; IntAct=EBI-2557132, EBI-946046;
CC Q8NBT0; P27797: CALR; NbExp=3; IntAct=EBI-2557132, EBI-1049597;
CC Q8NBT0; P12830: CDH1; NbExp=3; IntAct=EBI-2557132, EBI-727477;
CC Q8NBT0; P36957: DLST; NbExp=3; IntAct=EBI-2557132, EBI-351007;
CC Q8NBT0; P42858: HTT; NbExp=15; IntAct=EBI-2557132, EBI-466029;
CC Q8NBT0; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-2557132, EBI-1055945;
CC Q8NBT0; P16284: PECAM1; NbExp=3; IntAct=EBI-2557132, EBI-716404;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome, centriole.
CC Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton,
CC spindle pole. Note=Component of both mother and daughter centrioles.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NBT0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NBT0-2; Sequence=VSP_017836;
CC Name=3;
CC IsoId=Q8NBT0-3; Sequence=VSP_046398;
CC -!- DISEASE: Short stature, onychodysplasia, facial dysmorphism, and
CC hypotrichosis (SOFT) [MIM:614813]: A syndrome characterized by severely
CC short long bones, peculiar facies associated with paucity of hair, and
CC nail anomalies. Growth retardation is evident on prenatal ultrasound as
CC early as the second trimester of pregnancy, and affected individuals
CC reach a final stature consistent with a height age of 6 years to 8
CC years. Relative macrocephaly is present during early childhood but head
CC circumference is markedly low by adulthood. Psychomotor development is
CC normal. Facial dysmorphism includes a long, triangular face with
CC prominent nose and small ears, and affected individuals have an unusual
CC high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal
CC phalanges and fingernails are present in association with postpubertal
CC sparse and short hair. Typical skeletal findings include short and
CC thick long bones with mild irregular metaphyseal changes, short femoral
CC necks, and hypoplastic pelvis and sacrum. All long bones of the hand
CC are short, with major delay of carpal ossification and cone-shaped
CC epiphyses. Vertebral body ossification is also delayed.
CC {ECO:0000269|PubMed:22840363, ECO:0000269|PubMed:22840364}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry. Cells derived from affected individuals have abnormal mitotic
CC mechanics with multipolar spindles, in addition to clearly impaired
CC ciliogenesis.
CC -!- SIMILARITY: Belongs to the WD repeat POC1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI19694.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB56021.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK075289; BAC11525.1; -; mRNA.
DR EMBL; AC097637; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC115284; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007417; AAH07417.2; -; mRNA.
DR EMBL; BC110877; AAI10878.1; -; mRNA.
DR EMBL; BC119692; AAI19693.1; -; mRNA.
DR EMBL; BC119693; AAI19694.1; ALT_INIT; mRNA.
DR EMBL; AL117629; CAB56021.1; ALT_INIT; mRNA.
DR CCDS; CCDS2846.1; -. [Q8NBT0-1]
DR CCDS; CCDS54591.1; -. [Q8NBT0-3]
DR CCDS; CCDS54592.1; -. [Q8NBT0-2]
DR PIR; T17331; T17331.
DR RefSeq; NP_001155052.1; NM_001161580.1. [Q8NBT0-2]
DR RefSeq; NP_001155053.1; NM_001161581.1. [Q8NBT0-3]
DR RefSeq; NP_056241.3; NM_015426.4. [Q8NBT0-1]
DR AlphaFoldDB; Q8NBT0; -.
DR SMR; Q8NBT0; -.
DR BioGRID; 117397; 130.
DR IntAct; Q8NBT0; 102.
DR STRING; 9606.ENSP00000296484; -.
DR iPTMnet; Q8NBT0; -.
DR PhosphoSitePlus; Q8NBT0; -.
DR BioMuta; POC1A; -.
DR DMDM; 91207986; -.
DR EPD; Q8NBT0; -.
DR jPOST; Q8NBT0; -.
DR MassIVE; Q8NBT0; -.
DR MaxQB; Q8NBT0; -.
DR PaxDb; Q8NBT0; -.
DR PeptideAtlas; Q8NBT0; -.
DR PRIDE; Q8NBT0; -.
DR ProteomicsDB; 20074; -.
DR ProteomicsDB; 72818; -. [Q8NBT0-1]
DR ProteomicsDB; 72819; -. [Q8NBT0-2]
DR Antibodypedia; 31157; 125 antibodies from 20 providers.
DR DNASU; 25886; -.
DR Ensembl; ENST00000296484.7; ENSP00000296484.2; ENSG00000164087.8. [Q8NBT0-1]
DR Ensembl; ENST00000394970.6; ENSP00000378421.2; ENSG00000164087.8. [Q8NBT0-2]
DR Ensembl; ENST00000474012.1; ENSP00000418968.1; ENSG00000164087.8. [Q8NBT0-3]
DR GeneID; 25886; -.
DR KEGG; hsa:25886; -.
DR MANE-Select; ENST00000296484.7; ENSP00000296484.2; NM_015426.5; NP_056241.3.
DR UCSC; uc003dcu.4; human. [Q8NBT0-1]
DR CTD; 25886; -.
DR DisGeNET; 25886; -.
DR GeneCards; POC1A; -.
DR HGNC; HGNC:24488; POC1A.
DR HPA; ENSG00000164087; Tissue enhanced (lymphoid tissue, testis).
DR MalaCards; POC1A; -.
DR MIM; 614783; gene.
DR MIM; 614813; phenotype.
DR neXtProt; NX_Q8NBT0; -.
DR OpenTargets; ENSG00000164087; -.
DR Orphanet; 314394; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
DR PharmGKB; PA165698089; -.
DR VEuPathDB; HostDB:ENSG00000164087; -.
DR eggNOG; ENOG502QSVJ; Eukaryota.
DR GeneTree; ENSGT00940000157494; -.
DR HOGENOM; CLU_000288_57_17_1; -.
DR InParanoid; Q8NBT0; -.
DR OMA; SEMDCGI; -.
DR OrthoDB; 1196215at2759; -.
DR PhylomeDB; Q8NBT0; -.
DR TreeFam; TF324210; -.
DR PathwayCommons; Q8NBT0; -.
DR SignaLink; Q8NBT0; -.
DR BioGRID-ORCS; 25886; 137 hits in 1079 CRISPR screens.
DR ChiTaRS; POC1A; human.
DR GenomeRNAi; 25886; -.
DR Pharos; Q8NBT0; Tbio.
DR PRO; PR:Q8NBT0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8NBT0; protein.
DR Bgee; ENSG00000164087; Expressed in pancreatic ductal cell and 100 other tissues.
DR Genevisible; Q8NBT0; HS.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0000922; C:spindle pole; IDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 7.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 7.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Disease variant; Dwarfism; Hypotrichosis; Reference proteome; Repeat;
KW WD repeat.
FT CHAIN 1..407
FT /note="POC1 centriolar protein homolog A"
FT /id="PRO_0000231522"
FT REPEAT 17..56
FT /note="WD 1"
FT REPEAT 59..98
FT /note="WD 2"
FT REPEAT 101..140
FT /note="WD 3"
FT REPEAT 143..182
FT /note="WD 4"
FT REPEAT 185..224
FT /note="WD 5"
FT REPEAT 227..266
FT /note="WD 6"
FT REPEAT 269..308
FT /note="WD 7"
FT COILED 369..397
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..38
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046398"
FT VAR_SEQ 328..375
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_017836"
FT VARIANT 79
FT /note="G -> S (in dbSNP:rs35249554)"
FT /id="VAR_057627"
FT VARIANT 171
FT /note="L -> P (in SOFT; dbSNP:rs397514488)"
FT /evidence="ECO:0000269|PubMed:22840363"
FT /id="VAR_068884"
FT VARIANT 348
FT /note="Q -> H (in dbSNP:rs35898691)"
FT /id="VAR_057628"
FT CONFLICT 219
FT /note="H -> Y (in Ref. 1; BAC11525)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 407 AA; 45009 MW; A5BF28F024DCCC98 CRC64;
MAAPCAEDPS LERHFKGHRD AVTCVDFSIN TKQLASGSMD SCLMVWHMKP QSRAYRFTGH
KDAVTCVNFS PSGHLLASGS RDKTVRIWVP NVKGESTVFR AHTATVRSVH FCSDGQSFVT
ASDDKTVKVW ATHRQKFLFS LSQHINWVRC AKFSPDGRLI VSASDDKTVK LWDKSSRECV
HSYCEHGGFV TYVDFHPSGT CIAAAGMDNT VKVWDVRTHR LLQHYQLHSA AVNGLSFHPS
GNYLITASSD STLKILDLME GRLLYTLHGH QGPATTVAFS RTGEYFASGG SDEQVMVWKS
NFDIVDHGEV TKVPRPPATL ASSMGNLPEV DFPVPPGRGR SVESVQSQPQ EPVSVPQTLT
STLEHIVGQL DVLTQTVSIL EQRLTLTEDK LKQCLENQQL IMQRATP
