POC1B - POC1 centriolar protein B Gene

Also Known as PIX1; CORD20; TUWD12; WDR51B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 282809

About POC1B

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:89,419,718-89,526,047 (from NCBI)

This gene has 14 transcripts (splice variants), 153 orthologues, 26 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 7.2), small intestine (RPKM 5.7) and 25 other tissues.

Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

POC1B Products (2)

mRNA	Protein	Name
NM_001199777.2	NP_001186706.1	POC1 centriolar protein homolog B isoform b
NM_172240.3	NP_758440.1	POC1 centriolar protein homolog B isoform a

POC1B Protein Structure

WD40

0
100
200
300
400
478 a.a.

Protein Preferred Names	Protein Names
POC1 centriolar protein homolog B	WD repeat-containing protein 51B

POC1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POC1B	Q8TC44	NUDC	Homo sapiens	Q9Y266	Anti Tag CoIP	28514442
Intra	POC1B	Q8TC44	NUDC	Homo sapiens	Q9Y266	BioID	26638075
Intra	POC1B	Q8TC44	NUDC	Homo sapiens	Q9Y266	Lumier	25036637
Intra	POC1B	Q8TC44	NUDC	Homo sapiens	Q9Y266	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cone-Rod Dystrophy 20	CORD20 Dystrophy, Cone-Rod, Type 20
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Childhood-Onset Schizophrenia	Childhood Schizophrenia Schizophrenia, Childhood
Cone-Rod Dystrophy 16	Retinitis Pigmentosa 64 Retinal Dystrophy With Early Macular Involvement CORD16 RP64
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Colloid Carcinoma Of The Pancreas
Nephrotic Syndrome, Type 3	NPHS3 Nephrotic Syndrome Type 3 Nephrotic Syndrome, Early-Onset, Type 3 Early Onset Nephrotic Syndrome Type 3 Nephrotic Syndrome 3 Early-Onset Nephrotic Syndrome Type 3
Retinitis Pigmentosa 28	RP28 Retinitis Pigmentosa, Type 28
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	POC1B	RGD	RGD:2323942
Canis familiaris	POC1B	VGNC	VGNC:54220
Mus musculus	POC1B	MGD	MGI:1918511
Bos taurus	POC1B	VGNC	VGNC:50158
Felis catus	POC1B	VGNC	VGNC:97561
Macaca mulatta	POC1B	VGNC	VGNC:100090
Others	POC1B	NCBI