Elovl5 Gene Detail

Summary

• Symbol
  Elovl5
• Name
  ELOVL family member 5, elongation of long chain fatty acids (yeast)
• Synonyms
  1110059L23Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1916051
  NCBI Gene: 68801
• Alliance
  gene page
• Transcription Start Sites
  43 TSS

Location &
Maps

• Sequence Map
  Chr9:77824647-77891801 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 9, 43.36 cM
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  468 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916051	protein coding gene	Chr9:77824646-77891801 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035055	protein coding gene	Chr9:78377627-78450580 (+)
A/J	MGP_AJ_G0035036	protein coding gene	Chr9:75640779-75709618 (+)
AKR/J	MGP_AKRJ_G0034965	protein coding gene	Chr9:77439345-77509194 (+)
BALB/cJ	MGP_BALBcJ_G0035028	protein coding gene	Chr9:75318803-75388070 (+)
C3H/HeJ	MGP_C3HHeJ_G0034737	protein coding gene	Chr9:77955115-78026620 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035546	protein coding gene	Chr9:80482505-80555107 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032457	protein coding gene	Chr9:74877520-74943785 (+)
CAST/EiJ	MGP_CASTEiJ_G0034059	protein coding gene	Chr9:78293082-78365870 (+)
CBA/J	MGP_CBAJ_G0034709	protein coding gene	Chr9:83236906-83320909 (+)
DBA/2J	MGP_DBA2J_G0034869	protein coding gene	Chr9:75300525-75371172 (+)
FVB/NJ	MGP_FVBNJ_G0034811	protein coding gene	Chr9:74543859-74614602 (+)
LP/J	MGP_LPJ_G0034950	protein coding gene	Chr9:78608103-78683083 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034852	protein coding gene	Chr9:84473868-84549194 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035569	protein coding gene	Chr9:77615627-77684371 (+)
PWK/PhJ	MGP_PWKPhJ_G0033763	protein coding gene	Chr9:75532493-75598523 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033596	protein coding gene	Chr9:77845099-77911224 (+)
WSB/EiJ	MGP_WSBEiJ_G0034171	protein coding gene	Chr9:77537898-77609456 (+)

Homology

• Human Ortholog
  ELOVL5, ELOVL fatty acid elongase 5

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  ELOVL5, ELOVL fatty acid elongase 5
  
• Synonyms
  dJ483K16.1, HELO1, SCA38
• Links
  HGNC:21308

  NCBI Gene ID: 60481

  neXtProt AC: NX_Q9NYP7

  UniProt: Q9NYP7

  
  
• Chr Location
  6p12.1; chr6:53267398-53349179 (-)  GRCh38.p7

---

• Alliance of Genome Resources
  Elovl5 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: ELOVL5
• Gene Tree
  Elovl5
  

Human Diseases

• Diseases
  1 with human ELOVL5 associations

				Human Disease	Mouse Models
				spinocerebellar ataxia type 38 IDs spinocerebellar ataxia type 38       DOID:0050985 OMIM:615957

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  3 phenotypes from 1 allele in 1 genetic background
  17 phenotype references
  

• All Mutations and Alleles
  123
• Chemically induced (other)
  1
• Gene trapped
  119
• Radiation induced
  1
• Targeted
  2
• Genomic Mutations
  2 involving Elovl5
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  88 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  27
• GO References
  6

Expression

• Assay Results
  770
• Tissues
  96
• cDNA Data
  20
• Literature Summary
  5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase elovl5
  ZFIN elovl5

Interactions

• Elovl5 interacts with 307 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

Sequences &
Gene Models

• All Sequences
  61
• RefSeq
  8
• UniProt
  4
• CCDS
  CCDS23355.1

• Ensembl
  ENSMUSG00000032349 (Evidence)
• NCBI Gene
  68801

Representative Sequences			Length	Strain/Species
genomic	68801	NCBI Gene Model | MGI Sequence Detail	67155	C57BL/6J
transcript	NM_134255	RefSeq | MGI Sequence Detail	2802	C57BL/6
polypeptide	Q8BHI7	UniProt | EBI | MGI Sequence Detail	299	Not Applicable

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000007040 elongation of very long chain fatty acids protein 5
  (term hierarchy)
• EC
  2.3.1.199
• InterPro Domains
  IPR002076 ELO family
  IPR033677 Elongation of very long chain fatty acids protein 5

Molecular
Reagents

• All nucleic 22

  cDNA 20

  Primer pair 2

  
  

  Microarray probesets 4

Other
Accession IDs

MGI:2143114, MGI:2143235

References

• Summaries
  All 53

  Developmental Gene Expression 5

  Gene Ontology 6

  Phenotypes 17
• Earliest
  J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
• Latest
  J:322212 Hoxha E, et al., Elovl5 is required for proper action potential conduction along peripheral myelinated fibers. Glia. 2021 Oct;69(10):2419-2428

TSS for Elovl5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86214	Chr9:77824467-77824489 (+)	-169 bp
Tssr86215	Chr9:77824490-77824505 (+)	-149 bp
Tssr86216	Chr9:77824530-77824539 (+)	-112 bp
Tssr86217	Chr9:77824657-77824668 (+)	16 bp
Tssr86218	Chr9:77824679-77824735 (+)	60 bp
Tssr2945	Chr9:77824744-77824755 (+)	103 bp
Tssr86219	Chr9:77827460-77827469 (+)	2,818 bp
Tssr86220	Chr9:77827682-77827685 (+)	3,037 bp
Tssr86221	Chr9:77828758-77828763 (+)	4,114 bp
Tssr86222	Chr9:77828767-77828782 (+)	4,128 bp
Tssr86223	Chr9:77828804-77828809 (+)	4,160 bp
Tssr86224	Chr9:77829003-77829028 (+)	4,369 bp
Tssr86225	Chr9:77829190-77829201 (+)	4,549 bp
Tssr86226	Chr9:77830550-77830554 (+)	5,905 bp
Tssr86227	Chr9:77830599-77830610 (+)	5,958 bp
Tssr86228	Chr9:77830947-77830970 (+)	6,312 bp
Tssr86229	Chr9:77830994-77831022 (+)	6,361 bp
Tssr86230	Chr9:77831706-77831717 (+)	7,065 bp
Tssr86231	Chr9:77842658-77842664 (+)	18,014 bp
Tssr86232	Chr9:77848516-77848526 (+)	23,874 bp
Tssr86233	Chr9:77848535-77848552 (+)	23,897 bp
Tssr86234	Chr9:77848556-77848585 (+)	23,924 bp
Tssr86235	Chr9:77864417-77864459 (+)	39,791 bp
Tssr86236	Chr9:77868153-77868182 (+)	43,521 bp
Tssr86237	Chr9:77868231-77868242 (+)	43,590 bp
Tssr86238	Chr9:77868254-77868267 (+)	43,614 bp
Tssr86239	Chr9:77869583-77869589 (+)	44,939 bp
Tssr86240	Chr9:77884044-77884055 (+)	59,403 bp
Tssr86241	Chr9:77884124-77884136 (+)	59,483 bp
Tssr86242	Chr9:77884164-77884175 (+)	59,523 bp
Tssr86243	Chr9:77887112-77887123 (+)	62,471 bp
Tssr86244	Chr9:77887161-77887174 (+)	62,521 bp
Tssr86245	Chr9:77887200-77887207 (+)	62,557 bp
Tssr86246	Chr9:77888788-77888806 (+)	64,150 bp
Tssr86247	Chr9:77889962-77889969 (+)	65,319 bp
Tssr86248	Chr9:77889970-77889980 (+)	65,328 bp
Tssr86249	Chr9:77890003-77890012 (+)	65,361 bp
Tssr86250	Chr9:77890138-77890145 (+)	65,495 bp
Tssr86251	Chr9:77890281-77890315 (+)	65,651 bp
Tssr86252	Chr9:77890436-77890447 (+)	65,795 bp
Tssr86253	Chr9:77890799-77890829 (+)	66,167 bp
Tssr86254	Chr9:77890853-77890864 (+)	66,212 bp
Tssr86255	Chr9:77891064-77891082 (+)	66,426 bp