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LCA5L lebercilin LCA5 like [ Homo sapiens (human) ]

Gene ID: 150082, updated on 27-Nov-2024

Summary

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Official Symbol
LCA5Lprovided by HGNC
Official Full Name
lebercilin LCA5 likeprovided by HGNC
Primary source
HGNC:HGNC:1255
See related
Ensembl:ENSG00000157578 AllianceGenome:HGNC:1255
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
Summary
Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 36.4) See more
Orthologs
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Genomic context

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See LCA5L in Genome Data Viewer
Location:
21q22.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39405728..39445778, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37790313..37830401, complement)
RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr21:40723570-40723774 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40731973-40732197 Neighboring gene GET1-SH3BGR readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18468 Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18469 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40823338-40823876 Neighboring gene microRNA 6508 Neighboring gene SH3 domain binding glutamate rich protein Neighboring gene MYL6 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. den Hollander AI, et al. Nat Genet, 2007 Jul. PMID 17546029
  2. Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners. Alves da Silva AF, et al. PLoS One, 2016. PMID 27100087, Free PMC Article
  3. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
  4. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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_001384285.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  2. NM_001384286.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  3. NM_001384287.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  4. NM_001384288.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  5. NM_001384289.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  6. NM_001384291.1 → NP_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
    Consensus CDS
    CCDS13665.1
    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Related
    ENSP00000351008.2, ENST00000358268.6
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  7. NM_001384292.1 → NP_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:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  8. NM_001384293.1 → NP_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:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  9. NM_001384294.1 → NP_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:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  10. NM_001384295.1 → NP_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:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  11. NM_001384296.1 → NP_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:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  12. NM_001384297.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  13. NM_001384298.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  14. NM_001384299.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  15. NM_001384300.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  16. NM_001384301.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  17. NM_001384302.1 → NP_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
    Consensus CDS
    CCDS93098.1
    UniProtKB/TrEMBL
    U3KPS7
    Related
    ENSP00000475187.1, ENST00000485895.6
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 279
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  18. NM_001384303.1 → NP_001371232.1  lebercilin-like protein isoform d

    Status: VALIDATED

    Source sequence(s)
    AF121781
    Conserved Domains (1) summary
    pfam15619
    Location:16 → 195
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  19. NM_001384304.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  20. NM_001384305.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  21. NM_001384306.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  22. NM_001384307.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  23. NM_001384308.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  24. NM_001384309.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  25. NM_001384310.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  26. NM_001384311.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  27. NM_001384312.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  28. NM_001384313.1 → NP_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:16 → 149
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  29. NM_152505.4 → NP_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
    D3DSI0, O95447, Q3ZCT0
    Related
    ENSP00000288350.3, ENST00000288350.8
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    39405728..39445778 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529470.2 → XP_011527772.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527772.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  2. XM_011529465.2 → XP_011527767.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527767.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. XM_047440694.1 → XP_047296650.1  lebercilin-like protein isoform X1

  4. XM_011529462.2 → XP_011527764.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527764.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  5. XM_047440686.1 → XP_047296642.1  lebercilin-like protein isoform X1

  6. XM_047440697.1 → XP_047296653.1  lebercilin-like protein isoform X3

    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0
    Related
    ENSP00000370046.2, ENST00000380671.6

  7. XM_011529468.2 → XP_011527770.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527770.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  8. XM_011529464.2 → XP_011527766.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527766.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  9. XM_047440685.1 → XP_047296641.1  lebercilin-like protein isoform X1

  10. XM_011529459.2 → XP_011527761.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527761.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  11. XM_017028274.2 → XP_016883763.1  lebercilin-like protein isoform X4

    Conserved Domains (1) summary
    pfam15619
    Location:16 → 201
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  12. XM_047440696.1 → XP_047296652.1  lebercilin-like protein isoform X3

    UniProtKB/Swiss-Prot
    D3DSI0, O95447, Q3ZCT0

  13. XM_047440695.1 → XP_047296651.1  lebercilin-like protein isoform X2

  14. XM_047440684.1 → XP_047296640.1  lebercilin-like protein isoform X1

  15. XM_011529467.2 → XP_011527769.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527769.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  16. XM_047440689.1 → XP_047296645.1  lebercilin-like protein isoform X1

  17. XM_011529461.2 → XP_011527763.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527763.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  18. XM_011529460.2 → XP_011527762.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527762.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  19. XM_047440690.1 → XP_047296646.1  lebercilin-like protein isoform X1

  20. XM_047440687.1 → XP_047296643.1  lebercilin-like protein isoform X1

  21. XM_011529466.2 → XP_011527768.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527768.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  22. XM_011529463.3 → XP_011527765.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527765.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  23. XM_047440692.1 → XP_047296648.1  lebercilin-like protein isoform X1

  24. XM_047440693.1 → XP_047296649.1  lebercilin-like protein isoform X1

  25. XM_011529458.2 → XP_011527760.1  lebercilin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011527760.1

    Conserved Domains (2) summary
    pfam15619
    Location:195 → 374
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl12013
    Location:206 → 299
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  26. XM_047440691.1 → XP_047296647.1  lebercilin-like protein isoform X1

  27. XM_047440688.1 → XP_047296644.1  lebercilin-like protein isoform X1

  28. XM_047440698.1 → XP_047296654.1  lebercilin-like protein isoform X5

    UniProtKB/TrEMBL
    U3KPS7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    37790313..37830401 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324356.1 → XP_054180331.1  lebercilin-like protein isoform X1

  2. XM_054324353.1 → XP_054180328.1  lebercilin-like protein isoform X1

  3. XM_054324352.1 → XP_054180327.1  lebercilin-like protein isoform X1

  4. XM_054324340.1 → XP_054180315.1  lebercilin-like protein isoform X1

  5. XM_054324338.1 → XP_054180313.1  lebercilin-like protein isoform X1

  6. XM_054324359.1 → XP_054180334.1  lebercilin-like protein isoform X3

  7. XM_054324355.1 → XP_054180330.1  lebercilin-like protein isoform X1

  8. XM_054324337.1 → XP_054180312.1  lebercilin-like protein isoform X1

  9. XM_054324336.1 → XP_054180311.1  lebercilin-like protein isoform X1

  10. XM_054324360.1 → XP_054180335.1  lebercilin-like protein isoform X4

  11. XM_054324358.1 → XP_054180333.1  lebercilin-like protein isoform X3

  12. XM_054324357.1 → XP_054180332.1  lebercilin-like protein isoform X2

  13. XM_054324335.1 → XP_054180310.1  lebercilin-like protein isoform X1

  14. XM_054324354.1 → XP_054180329.1  lebercilin-like protein isoform X1

  15. XM_054324345.1 → XP_054180320.1  lebercilin-like protein isoform X1

  16. XM_054324342.1 → XP_054180317.1  lebercilin-like protein isoform X1

  17. XM_054324339.1 → XP_054180314.1  lebercilin-like protein isoform X1

  18. XM_054324346.1 → XP_054180321.1  lebercilin-like protein isoform X1

  19. XM_054324344.1 → XP_054180319.1  lebercilin-like protein isoform X1

  20. XM_054324350.1 → XP_054180325.1  lebercilin-like protein isoform X1

  21. XM_054324351.1 → XP_054180326.1  lebercilin-like protein isoform X1

  22. XM_054324348.1 → XP_054180323.1  lebercilin-like protein isoform X1

  23. XM_054324349.1 → XP_054180324.1  lebercilin-like protein isoform X1

  24. XM_054324341.1 → XP_054180316.1  lebercilin-like protein isoform X1

  25. XM_054324347.1 → XP_054180322.1  lebercilin-like protein isoform X1

  26. XM_054324343.1 → XP_054180318.1  lebercilin-like protein isoform X1

  27. XM_054324361.1 → XP_054180336.1  lebercilin-like protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95447.1 GenPept UniProtKB/Swiss-Prot:O95447

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