Tubby-Like Protein 1

Alternative Names

  • TULP1
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OMIM Number

602280

NCBI Gene ID

7287

Uniprot ID

O00294

Length

15,029 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Tubby-Related Protein 1

Molecular Mass

60609 Da

Amino Acid Count

542

Genomic Location

chr6:35,497,873-35,512,895

Gene Map Locus
6p21.31

Description

TULP1 is a member of the tubby-like family of proteins, consisting of four family members, and characterized by the highly conserved "tubby domain" located in their COOH-terminal part. These proteins are found to be conserved among vertebrate genomes and are localized primarily to the nervous system, expressing mainly in the retina. Although the exact function of TULP proteins is not well understood, these proteins appear to play an important role in neuronal development and function.

The TULP1 gene encodes a retinal protein made of 542 amino acids. This protein is involved in protein trafficking, such as the transport of rhodopsin from the inner segment to the outer segment via the connecting cilium. It is also required for normal development and function of photoreceptor synapses, and for long-term survival of photoreceptor cells.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003322.6:c.901C>TSaudi Arabiachr6:35506101PathogenicPathogenicLeber Congenital Amaurosis 15NG_009077.1:g.11770C>T; NM_003322.6:c.901C>T; NP_003313.3:p.Gln301Ter201070350828151

Other Reports

Algeria

In seven affected individuals from three sibships of a large consanguineous Algerian pedigree with LCA or early-onset retinal degeneration, Mataftsi et al. (2007) identified homozygosity for a 6-bp duplication (1593dupTTCGCC) in exon 15 of the TULP1 gene; predicted to duplicate two amino acids in the highly conserved C terminus. The duplication was found in heterozygosity in the unaffected parents and 15 other asymptomatic family members, but it was not found in 51 ethnically matched controls. In addition, this mutation was not detected in 500 RP probands.

Saudi Arabia

In 37 consanguineous families from Saudi Arabia with Leber congenital amaurosis, Li et al. (2009) performed direct PCR and sequencing for 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5). Of 417 individuals from these families, 117 were affected. Five of the 37 LCA families had the same novel nonsense p.Q301X mutation at codon 301 of the TULP1 gene, resulting in a severe protein truncation.

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