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Protein

Lebercilin-like protein

Gene

LCA5L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Lebercilin-like protein
Alternative name(s):
Leber congenital amaurosis 5-like protein
Gene namesi
Name:LCA5L
Synonyms:C21orf13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1255. LCA5L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162393809.

Polymorphism and mutation databases

BioMutaiLCA5L.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 670670Lebercilin-like proteinPRO_0000079507Add
BLAST

Proteomic databases

EPDiO95447.
PaxDbiO95447.
PRIDEiO95447.

PTM databases

iPTMnetiO95447.
PhosphoSiteiO95447.

Expressioni

Gene expression databases

BgeeiO95447.
CleanExiHS_LCA5L.
ExpressionAtlasiO95447. baseline and differential.
GenevisibleiO95447. HS.

Organism-specific databases

HPAiHPA019790.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NMIQ132873EBI-8473670,EBI-372942
NMIQ8WTW23EBI-8473670,EBI-10174268
TFIP11Q9UBB93EBI-8473670,EBI-1105213
TPM3P067533EBI-8473670,EBI-355607
TPM3Q5VU623EBI-8473670,EBI-10184033

Protein-protein interaction databases

BioGridi127258. 6 interactions.
IntActiO95447. 7 interactions.
MINTiMINT-8417687.
STRINGi9606.ENSP00000288350.

Structurei

3D structure databases

ProteinModelPortaliO95447.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili148 – 259112Sequence analysisAdd
BLAST
Coiled coili305 – 33632Sequence analysisAdd
BLAST
Coiled coili420 – 44021Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the LCA5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIMI. Eukaryota.
ENOG4111QVK. LUCA.
GeneTreeiENSGT00560000077266.
HOGENOMiHOG000037923.
HOVERGENiHBG051224.
InParanoidiO95447.
OMAiHYSFTEA.
OrthoDBiEOG7D85WN.
PhylomeDBiO95447.
TreeFamiTF323306.

Family and domain databases

InterProiIPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view]
PANTHERiPTHR16650. PTHR16650. 1 hit.
PfamiPF15619. Lebercilin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95447-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLADLTKTN IDEHFFGVAL ENNRRSAACK RSPGTGDFSR NSNASNKSVD
60 70 80 90 100
YSRSQCSCGS LSSQYDYSED FLCDCSEKAI NRNYLKQPVV KEKEKKKYNV
110 120 130 140 150
SKISQSKGQK EISVEKKHTW NASLFNSQIH MIAQRRDAMA HRILSARLHK
160 170 180 190 200
IKGLKNELAD MHHKLEAILT ENQFLKQLQL RHLKAIGKYE NSQNNLPQIM
210 220 230 240 250
AKHQNEVKNL RQLLRKSQEK ERTLSRKLRE TDSQLLKTKD ILQALQKLSE
260 270 280 290 300
DKNLAEREEL THKLSIITTK MDANDKKIQS LEKQLRLNCR AFSRQLAIET
310 320 330 340 350
RKTLAAQTAT KTLQVEVKHL QQKLKEKDRE LEIKNIYSHR ILKNLHDTED
360 370 380 390 400
YPKVSSTKSV QADRKILPFT SMRHQGTQKS DVPPLTTKGK KATGNIDHKE
410 420 430 440 450
KSTEINHEIP HCVNKLPKQE DSKRKYEDLS GEEKHLEVQI LLENTGRQKD
460 470 480 490 500
KKEDQEKKNI FVKEEQELPP KIIEVIHPER ESNQEDVLVR EKFKRSMQRN
510 520 530 540 550
GVDDTLGKGT APYTKGPLRQ RRHYSFTEAT ENLHHGLPAS GGPANAGNMR
560 570 580 590 600
YSHSTGKHLS NREEMELEHS DSGYEPSFGK SSRIKVKDTT FRDKKSSLME
610 620 630 640 650
ELFGSGYVLK TDQSSPGVAK GSEEPLQSKE SHPLPPSQAS TSHAFGDSKV
660 670
TVVNSIKPSS PTEGKRKIII
Length:670
Mass (Da):76,505
Last modified:May 1, 1999 - v1
Checksum:iF0EE28F8F5AB70F8
GO

Sequence cautioni

The sequence CAB90455.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171G → S.
Corresponds to variant rs2837029 [ dbSNP | Ensembl ].
VAR_021947
Natural varianti547 – 5471G → S.1 Publication
Corresponds to variant rs11558767 [ dbSNP | Ensembl ].
VAR_042739

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF121781 Genomic DNA. Translation: AAD12066.1.
AL163279 Genomic DNA. Translation: CAB90455.1. Different initiation.
CH471079 Genomic DNA. Translation: EAX09641.1.
CH471079 Genomic DNA. Translation: EAX09642.1.
CH471079 Genomic DNA. Translation: EAX09644.1.
BC031059 mRNA. Translation: AAH31059.1.
BC043006 mRNA. Translation: AAH43006.1.
CCDSiCCDS13665.1.
RefSeqiNP_689718.1. NM_152505.3.
XP_005260983.1. XM_005260926.1.
XP_006724030.1. XM_006723967.1.
UniGeneiHs.517284.

Genome annotation databases

EnsembliENST00000288350; ENSP00000288350; ENSG00000157578.
ENST00000358268; ENSP00000351008; ENSG00000157578.
ENST00000380671; ENSP00000370046; ENSG00000157578.
GeneIDi150082.
KEGGihsa:150082.
UCSCiuc002yxv.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF121781 Genomic DNA. Translation: AAD12066.1.
AL163279 Genomic DNA. Translation: CAB90455.1. Different initiation.
CH471079 Genomic DNA. Translation: EAX09641.1.
CH471079 Genomic DNA. Translation: EAX09642.1.
CH471079 Genomic DNA. Translation: EAX09644.1.
BC031059 mRNA. Translation: AAH31059.1.
BC043006 mRNA. Translation: AAH43006.1.
CCDSiCCDS13665.1.
RefSeqiNP_689718.1. NM_152505.3.
XP_005260983.1. XM_005260926.1.
XP_006724030.1. XM_006723967.1.
UniGeneiHs.517284.

3D structure databases

ProteinModelPortaliO95447.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127258. 6 interactions.
IntActiO95447. 7 interactions.
MINTiMINT-8417687.
STRINGi9606.ENSP00000288350.

PTM databases

iPTMnetiO95447.
PhosphoSiteiO95447.

Polymorphism and mutation databases

BioMutaiLCA5L.

Proteomic databases

EPDiO95447.
PaxDbiO95447.
PRIDEiO95447.

Protocols and materials databases

DNASUi150082.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288350; ENSP00000288350; ENSG00000157578.
ENST00000358268; ENSP00000351008; ENSG00000157578.
ENST00000380671; ENSP00000370046; ENSG00000157578.
GeneIDi150082.
KEGGihsa:150082.
UCSCiuc002yxv.4. human.

Organism-specific databases

CTDi150082.
GeneCardsiLCA5L.
HGNCiHGNC:1255. LCA5L.
HPAiHPA019790.
neXtProtiNX_O95447.
PharmGKBiPA162393809.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIMI. Eukaryota.
ENOG4111QVK. LUCA.
GeneTreeiENSGT00560000077266.
HOGENOMiHOG000037923.
HOVERGENiHBG051224.
InParanoidiO95447.
OMAiHYSFTEA.
OrthoDBiEOG7D85WN.
PhylomeDBiO95447.
TreeFamiTF323306.

Miscellaneous databases

GenomeRNAii150082.
PROiO95447.

Gene expression databases

BgeeiO95447.
CleanExiHS_LCA5L.
ExpressionAtlasiO95447. baseline and differential.
GenevisibleiO95447. HS.

Family and domain databases

InterProiIPR026188. Lebercilin-like.
IPR028933. Lebercilin_dom.
[Graphical view]
PANTHERiPTHR16650. PTHR16650. 1 hit.
PfamiPF15619. Lebercilin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-547.
    Tissue: Testis.

Entry informationi

Entry nameiLCA5L_HUMAN
AccessioniPrimary (citable) accession number: O95447
Secondary accession number(s): D3DSI0, Q3ZCT0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: June 8, 2016
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.