RP1 Gene

Alternative Names

  • RP1
  • Oxygen-Regulated Photoreceptor Protein 1
  • ORP1

Associated Diseases

Retinitis Pigmentosa 1
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OMIM Number

603937

NCBI Gene ID

6101

Uniprot ID

P56715

Length

362,299 bases

No. of Exons

38

No. of isoforms

1

Protein Name

Oxygen-Regulated Protein 1

Molecular Mass

240661 Da

Amino Acid Count

2156

Genomic Location

chr8:54,509,447-54,871,719

Gene Map Locus
8q11.2-q12.1

Description

The RP1 gene has been localized to chromosome 8q11.2-q12.1.  This gene encodes a member of the doublecortin family.  It has two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The protein encoded by RP1 is a photoreceptor microtubule-associated protein and is required for regulating the stability and length of the microtubule-based axoneme of photoreceptors.  The RP1 protein and the RP1L1 protein play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors, ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme.  Defects in this protein are the cause of retinitis pigmentosa 1 (RP1), a retinal dystrophy characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006269.1:c.3428delSaudi Arabiachr8:54627310PathogenicPathogenicRetinitis Pigmentosa 1NG_009840.1:g.16244del; NM_006269.1:c.3428del; NP_006260.1:p.Asn1143fs979006
NM_006269.1:c.3677dupIraqchr8:54627559PathogenicRetinitis Pigmentosa 1NG_009840.1:g.16493dup; NM_006269.1:c.3677dup; NP_006260.1:p.Asn1226LysfsTer2
NM_006269.2:c.3396G>ASaudi Arabiachr8:54627278PathogenicPathogenicRetinitis Pigmentosa 1NG_009840.2:g.16212G>A; NM_006269.2:c.3396G>A; NP_006260.1:p.Trp1132Ter561075447800956
NM_006269.2:c.4552A>TSaudi Arabiachr8:54628434PathogenicPathogenicRetinitis Pigmentosa 1NG_009840.2:g.17368A>T; NM_006269.2:c.4552A>T; NP_006260.1:p.Lys1518Ter979010
NM_006269.2:c.606C>ASaudi Arabiachr8:54621572PathogenicPathogenicRetinitis Pigmentosa 1NG_009840.1:g.10506C>A; NM_006269.2:c.606C>A; NP_006260.1:p.Asp202Glu979011
NM_006269.2:c.662delSaudi Arabiachr8:54622163PathogenicPathogenicRetinitis Pigmentosa 1NG_009840.1:g.11097del; NM_006269.2:c.662del; NP_006260.1:p.Ala221fs979012
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