Q8NBT0 (POC1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
POC1 centriolar protein homolog A

Alternative name(s):
Pix2
WD repeat-containing protein 51A

Gene names

Name:	POC1A
Synonyms:	WDR51A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	407 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Required for ciliogenesis. Ref.7
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole. Cytoplasm › cytoskeleton › cilium basal body. Note: Component of both mother and daughter centrioles. Ref.5 Ref.6 Ref.7
Involvement in disease	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813]: A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed. Note: The disease is caused by mutations affecting the gene represented in this entry. Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis. Ref.8 Ref.9
Sequence similarities	Belongs to the WD repeat POC1 family. Contains 7 WD repeats.
Sequence caution	The sequence AAI19694.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAB56021.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Dwarfism Hypotrichosis
Domain	Coiled coil Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell projection organization Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	centriole Inferred from direct assay Ref.6. Source: UniProtKB microtubule basal body Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NBT0-1)

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.

Isoform 2 (identifier: Q8NBT0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     328-375: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8NBT0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 407	407	POC1 centriolar protein homolog A		PRO_0000231522
Regions
	Repeat	17 – 56	40	WD 1
	Repeat	59 – 98	40	WD 2
	Repeat	101 – 140	40	WD 3
	Repeat	143 – 182	40	WD 4
	Repeat	185 – 224	40	WD 5
	Repeat	227 – 266	40	WD 6
	Repeat	269 – 308	40	WD 7
	Coiled coil	369 – 397	29	Potential
Natural variations
	Alternative sequence	1 – 38	38	Missing in isoform 3.		VSP_046398
	Alternative sequence	328 – 375	48	Missing in isoform 2.		VSP_017836
	Natural variant	79	1	G → S. Corresponds to variant rs35249554 [ dbSNP | Ensembl ].		VAR_057627
	Natural variant	171	1	L → P in SOFT. Ref.9		VAR_068884
	Natural variant	348	1	Q → H. Corresponds to variant rs35898691 [ dbSNP | Ensembl ].		VAR_057628
Experimental info
	Sequence conflict	219	1	H → Y in BAC11525. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 4, 2006. Version 2. Checksum: A5BF28F024DCCC98	FASTA	407	45,009
	10 20 30 40 50 60 MAAPCAEDPS LERHFKGHRD AVTCVDFSIN TKQLASGSMD SCLMVWHMKP QSRAYRFTGH 70 80 90 100 110 120 KDAVTCVNFS PSGHLLASGS RDKTVRIWVP NVKGESTVFR AHTATVRSVH FCSDGQSFVT 130 140 150 160 170 180 ASDDKTVKVW ATHRQKFLFS LSQHINWVRC AKFSPDGRLI VSASDDKTVK LWDKSSRECV 190 200 210 220 230 240 HSYCEHGGFV TYVDFHPSGT CIAAAGMDNT VKVWDVRTHR LLQHYQLHSA AVNGLSFHPS 250 260 270 280 290 300 GNYLITASSD STLKILDLME GRLLYTLHGH QGPATTVAFS RTGEYFASGG SDEQVMVWKS 310 320 330 340 350 360 NFDIVDHGEV TKVPRPPATL ASSMGNLPEV DFPVPPGRGR SVESVQSQPQ EPVSVPQTLT 370 380 390 400 STLEHIVGQL DVLTQTVSIL EQRLTLTEDK LKQCLENQQL IMQRATP
	Isoform 2 [UniParc]. Checksum: BB89016A021611C0	FASTA	359	39,847
	10 20 30 40 50 60 MAAPCAEDPS LERHFKGHRD AVTCVDFSIN TKQLASGSMD SCLMVWHMKP QSRAYRFTGH 70 80 90 100 110 120 KDAVTCVNFS PSGHLLASGS RDKTVRIWVP NVKGESTVFR AHTATVRSVH FCSDGQSFVT 130 140 150 160 170 180 ASDDKTVKVW ATHRQKFLFS LSQHINWVRC AKFSPDGRLI VSASDDKTVK LWDKSSRECV 190 200 210 220 230 240 HSYCEHGGFV TYVDFHPSGT CIAAAGMDNT VKVWDVRTHR LLQHYQLHSA AVNGLSFHPS 250 260 270 280 290 300 GNYLITASSD STLKILDLME GRLLYTLHGH QGPATTVAFS RTGEYFASGG SDEQVMVWKS 310 320 330 340 350 NFDIVDHGEV TKVPRPPATL ASSMGNLTVS ILEQRLTLTE DKLKQCLENQ QLIMQRATP
	Isoform 3 [UniParc]. Checksum: B4C01336033853E4	FASTA	369	40,936
	10 20 30 40 50 60 MDSCLMVWHM KPQSRAYRFT GHKDAVTCVN FSPSGHLLAS GSRDKTVRIW VPNVKGESTV 70 80 90 100 110 120 FRAHTATVRS VHFCSDGQSF VTASDDKTVK VWATHRQKFL FSLSQHINWV RCAKFSPDGR 130 140 150 160 170 180 LIVSASDDKT VKLWDKSSRE CVHSYCEHGG FVTYVDFHPS GTCIAAAGMD NTVKVWDVRT 190 200 210 220 230 240 HRLLQHYQLH SAAVNGLSFH PSGNYLITAS SDSTLKILDL MEGRLLYTLH GHQGPATTVA 250 260 270 280 290 300 FSRTGEYFAS GGSDEQVMVW KSNFDIVDHG EVTKVPRPPA TLASSMGNLP EVDFPVPPGR 310 320 330 340 350 360 GRSVESVQSQ PQEPVSVPQT LTSTLEHIVG QLDVLTQTVS ILEQRLTLTE DKLKQCLENQ QLIMQRATP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: Retinoblastoma.
[2]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [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] (ISOFORMS 1; 2 AND 3). Tissue: Ovary.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 219-407 (ISOFORM 2). Tissue: Testis.
[5]	"Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells." Hames R.S., Hames R., Prosser S.L., Euteneuer U., Lopes C.A., Moore W., Woodland H.R., Fry A.M. Exp. Cell Res. 314:574-589(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[6]	"Basal body stability and ciliogenesis requires the conserved component Poc1." Pearson C.G., Osborn D.P., Giddings T.H. Jr., Beales P.L., Winey M. J. Cell Biol. 187:905-920(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control." Keller L.C., Geimer S., Romijn E., Yates J. III, Zamora I., Marshall W.F. Mol. Biol. Cell 20:1150-1166(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]	"POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism." Shaheen R., Faqeih E., Shamseldin H.E., Noche R.R., Sunker A., Alshammari M.J., Al-Sheddi T., Adly N., Al-Dosari M.S., Megason S.G., Al-Husain M., Al-Mohanna F., Alkuraya F.S. Am. J. Hum. Genet. 91:330-336(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SOFT.
[9]	"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation." Sarig O., Nahum S., Rapaport D., Ishida-Yamamoto A., Fuchs-Telem D., Qiaoli L., Cohen-Katsenelson K., Spiegel R., Nousbeck J., Israeli S., Borochowitz Z.U., Padalon-Brauch G., Uitto J., Horowitz M., Shalev S., Sprecher E. Am. J. Hum. Genet. 91:337-342(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SOFT PRO-171.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK075289 mRNA. Translation: BAC11525.1. AC097637 Genomic DNA. No translation available. AC115284 Genomic DNA. No translation available. BC007417 mRNA. Translation: AAH07417.2. BC110877 mRNA. Translation: AAI10878.1. BC119692 mRNA. Translation: AAI19693.1. BC119693 mRNA. Translation: AAI19694.1. Different initiation. AL117629 mRNA. Translation: CAB56021.1. Different initiation.
IPI	IPI00171440. IPI00719213. IPI00936600.
PIR	T17331.
RefSeq	NP_001155052.1. NM_001161580.1. NP_001155053.1. NM_001161581.1. NP_056241.3. NM_015426.4.
UniGene	Hs.476306.
3D structure databases
ProteinModelPortal	Q8NBT0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NBT0. 1 interaction.
Polymorphism databases
DMDM	91207986.
Proteomic databases
PaxDb	Q8NBT0.
PRIDE	Q8NBT0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296484; ENSP00000296484; ENSG00000164087. ENST00000394970; ENSP00000378421; ENSG00000164087. ENST00000474012; ENSP00000418968; ENSG00000164087.
GeneID	25886.
KEGG	hsa:25886.
UCSC	uc003dcu.3. human. uc003dcw.3. human.
Organism-specific databases
CTD	25886.
GeneCards	GC03M052109.
HGNC	HGNC:24488. POC1A.
HPA	HPA040600.
MIM	614783. gene. 614813. phenotype.
neXtProt	NX_Q8NBT0.
PharmGKB	PA165698089.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOVERGEN	HBG057502.
InParanoid	Q8NBT0.
KO	K16482.
OMA	ANHVEFH.
OrthoDB	EOG412M5H.
PhylomeDB	Q8NBT0.
Gene expression databases
ArrayExpress	Q8NBT0.
Bgee	Q8NBT0.
CleanEx	HS_WDR51A.
Genevestigator	Q8NBT0.
GermOnline	ENSG00000164087. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR020472. G-protein_beta_WD-40_rep. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 7 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
SMART	SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 7 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	25886.
NextBio	47308.
SOURCE	Search...

Entry information

Entry name

POC1A_HUMAN

Accession

Primary (citable) accession number: Q8NBT0
Secondary accession number(s): A4FUW4 , E9PFC6, Q0VDF8, Q2TAK6, Q96IK6, Q9UFJ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 4, 2006
Last sequence update:	April 4, 2006
Last modified:	May 1, 2013
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.