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LCA5L lebercilin LCA5 like [ Homo sapiens (human) ]

Gene ID: 150082, updated on 23-Nov-2021

Summary

Official Symbol
LCA5Lprovided by HGNC
Official Full Name
lebercilin LCA5 likeprovided by HGNC
Primary source
HGNC:HGNC:1255
See related
Ensembl:ENSG00000157578
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C21orf13
Expression
Restricted expression toward testis (RPKM 36.4) See more
Orthologs
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Genomic context

See LCA5L in Genome Data Viewer
Location:
21q22.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (39405728..39445793, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40777654..40817704, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372804 Neighboring gene GET1-SH3BGR readthrough Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene microRNA 6508 Neighboring gene SH3 domain binding glutamate rich protein Neighboring gene MYL6 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33295

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
lebercilin-like protein
Names
LCA5L, lebercilin like
leber congenital amaurosis 5-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001384285.1NP_001371214.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  2. NM_001384286.1NP_001371215.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  3. NM_001384287.1NP_001371216.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Related
    ENSP00000370046.2, ENST00000380671.6
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  4. NM_001384288.1NP_001371217.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  5. NM_001384289.1NP_001371218.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  6. NM_001384291.1NP_001371220.1  lebercilin-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
    Source sequence(s)
    AF121781
    Related
    ENSP00000351008.2, ENST00000358268.6
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  7. NM_001384292.1NP_001371221.1  lebercilin-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 9-12, encodes isoform b.
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  8. NM_001384293.1NP_001371222.1  lebercilin-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  9. NM_001384294.1NP_001371223.1  lebercilin-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  10. NM_001384295.1NP_001371224.1  lebercilin-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  11. NM_001384296.1NP_001371225.1  lebercilin-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  12. NM_001384297.1NP_001371226.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 14-18, encodes isoform c.
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  13. NM_001384298.1NP_001371227.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  14. NM_001384299.1NP_001371228.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  15. NM_001384300.1NP_001371229.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  16. NM_001384301.1NP_001371230.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  17. NM_001384302.1NP_001371231.1  lebercilin-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
    Source sequence(s)
    AF121781
    Related
    ENSP00000475187.1, ENST00000485895.6
    Conserved Domains (1) summary
    pfam15619
    Location:146279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  18. NM_001384303.1NP_001371232.1  lebercilin-like protein isoform d

    Status: VALIDATED

    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16195
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  19. NM_001384304.1NP_001371233.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 21-29, encodes isoform e.
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  20. NM_001384305.1NP_001371234.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  21. NM_001384306.1NP_001371235.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  22. NM_001384307.1NP_001371236.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  23. NM_001384308.1NP_001371237.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  24. NM_001384309.1NP_001371238.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  25. NM_001384310.1NP_001371239.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  26. NM_001384311.1NP_001371240.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (27) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  27. NM_001384312.1NP_001371241.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (28) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  28. NM_001384313.1NP_001371242.1  lebercilin-like protein isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  29. NM_152505.4NP_689718.1  lebercilin-like protein isoform a

    See identical proteins and their annotated locations for NP_689718.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variants 2-7, encodes the longest isoform (a).
    Source sequence(s)
    AF121781
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    O95447
    Related
    ENSP00000288350.3, ENST00000288350.8
    Conserved Domains (1) summary
    pfam15619
    Location:146331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    39405728..39445793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529468.1XP_011527770.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527770.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011529464.1XP_011527766.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527766.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_011529459.1XP_011527761.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527761.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_017028274.1XP_016883763.1  lebercilin-like protein isoform X4

    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  5. XM_011529467.1XP_011527769.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527769.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_011529460.1XP_011527762.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527762.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  7. XM_011529465.1XP_011527767.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527767.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. XM_011529462.1XP_011527764.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527764.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  9. XM_011529461.1XP_011527763.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527763.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  10. XM_017028277.1XP_016883766.1  lebercilin-like protein isoform X4

    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  11. XM_011529470.1XP_011527772.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527772.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  12. XM_011529466.1XP_011527768.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527768.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  13. XM_011529458.1XP_011527760.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527760.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  14. XM_017028276.1XP_016883765.1  lebercilin-like protein isoform X4

    Conserved Domains (1) summary
    pfam15619
    Location:16201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  15. XM_011529463.2XP_011527765.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527765.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  16. XM_011529469.3XP_011527771.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527771.1

    Conserved Domains (2) summary
    pfam15619
    Location:195374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  17. XM_011529471.1XP_011527773.1  lebercilin-like protein isoform X2

    Conserved Domains (2) summary
    pfam15619
    Location:195370
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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