Tubby-Like Protein 1

Alternative Names

TULP1

Length

15,029 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003322.6:c.1256G>A	Saudi Arabia	NC_000006.12:g.35503626C>T	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic	Retinitis Pigmentosa 14	NG_009077.1:g.14245G>A; NM_003322.6:c.1256G>A; NP_003313.3:p.Arg419Gln	770045008	191207
NM_003322.6:c.1495+1G>A	Saudi Arabia	NC_000006.12:g.35499980C>T	Pathogenic	Pathogenic	Retinitis Pigmentosa 14	NG_009077.1:g.17891G>A; NM_003322.6:c.1495+1G>A; NP_003313.3:p.?	281865168	99665
NM_003322.6:c.180del	Saudi Arabia	NC_000006.12:g.35512191del	Likely Pathogenic	Likely Pathogenic	Leber Congenital Amaurosis 15	NG_009077.1:g.5681del; NM_003322.6:c.180del; NP_003313.3:p.Lys61SerfsTer48	786205650	191330
NM_003322.6:c.901C>T	Saudi Arabia	chr6:35506101	Pathogenic	Pathogenic	Leber Congenital Amaurosis 15; Retinitis Pigmentosa 14	NG_009077.1:g.11770C>T; NM_003322.6:c.901C>T; NP_003313.3:p.Gln301Ter	201070350	828151

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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.

External Links

http://ghr.nlm.nih.gov/gene/TULP1 http://www.genecards.org/cgi-bin/carddisp.pl?gene=TULP1

Contributors

Ghazi O. Tadmouri: 09.12.2014
Pratibha Nair: 08.12.2014
Nada Assaf: 13.11.2014

Edit History

Sayeeda Hana: 11.11.2024
Sayeeda Hana: 01.07.2020
Pratibha Nair: 11.12.2014

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