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HYLS1 information


HYLS1
Identifiers
AliasesHYLS1, HLS, centriolar and ciliogenesis associated, HYLS1 centriolar and ciliogenesis associated
External IDsOMIM: 610693; MGI: 1924082; HomoloGene: 82283; GeneCards: HYLS1; OMA:HYLS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001134793
NM_145014
NM_001377269
NM_001377270

NM_029762

RefSeq (protein)

NP_001128265
NP_659451
NP_001364198
NP_001364199

NP_084038

Location (UCSC)Chr 11: 125.88 – 125.9 MbChr 9: 35.47 – 35.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[5][6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198331 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050555 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: hydrolethalus syndrome 1".
  6. ^ Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L (June 2005). "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1". Hum. Mol. Genet. 14 (11): 1475–88. doi:10.1093/hmg/ddi157. PMID 15843405.

and 6 Related for: HYLS1 information

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HYLS1

Last Update:

encoded by the HYLS1 gene. Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required...

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Hydrolethalus syndrome

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and, most commonly, stillbirth. HLS is associated with HYLS1 mutations. The gene encoding HYLS1 is responsible for proper cilial development within the...

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Chromosome 11

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HRASLS3: adipose phospholipase A2 HTATIP2: HIV-1 Tat interactive protein 2 HYLS1: Hydroletalus (Finnish heritage disease) related gene HYOU1: hypoxia upregulated...

Word Count : 1930

Ciliopathy

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cephalopolysyndactyly syndrome 175700 GLI3 Hydrolethalus syndrome 236680 HYLS1 Johanson–Blizzard syndrome 243800 UBR1 Mohr syndrome (oral-facial-digital...

Word Count : 2499

CCDC176

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LIG4-CCDC176 interaction. The second and third predicted interactions are NRF1 and HYLS1. The predicted secondary structure of BBOF1 in humans is as follows: 87...

Word Count : 678

List of OMIM disorder codes

Last Update:

disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia, familial transcient...

Word Count : 18877

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