U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ELMOD3 ELMO domain containing 3 [ Homo sapiens (human) ]

Gene ID: 84173, updated on 10-Dec-2024

Summary

Official Symbol
ELMOD3provided by HGNC
Official Full Name
ELMO domain containing 3provided by HGNC
Primary source
HGNC:HGNC:26158
See related
Ensembl:ENSG00000115459 MIM:615427; AllianceGenome:HGNC:26158
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LST3; RBED1; RBM29; DFNA81; DFNB88
Summary
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in fat (RPKM 29.3), skin (RPKM 5.6) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ELMOD3 in Genome Data Viewer
Location:
2p11.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85354769..85391748)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85356760..85393759)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85581892..85618871)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 2 Neighboring gene retinol saturase Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85581653-85582154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85582155-85582654 Neighboring gene RNA, 7SL, cytoplasmic 113, pseudogene Neighboring gene U7 small nuclear RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85628953-85629452 Neighboring gene capping actin protein, gelsolin like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85640593-85641094 Neighboring gene uncharacterized LOC105374841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85645284-85645819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16126 Neighboring gene SH2 domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85658733-85659404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85659405-85660075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85660076-85660746

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ21977, FLJ35601, MGC111036

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in auditory receptor cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in stereocilium maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in kinocilium IEA
Inferred from Electronic Annotation
more info
 
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ELMO domain-containing protein 3
Names
ELMO/CED-12 domain containing 3
RNA binding motif and ELMO/CED-12 domain 1
RNA-binding motif and ELMO domain-containing protein 1
RNA-binding motif protein 29
deafness, autosomal recessive 88
liver-specific organic anion transporter 3TM12
organic anion transporter LST-3b

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_051291.1 RefSeqGene

    Range
    5376..42355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135021.2NP_001128493.1  ELMO domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001128493.1

    Status: REVIEWED

    Source sequence(s)
    AF258573, AK025630, BC112324
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Related
    ENSP00000386248.3, ENST00000409344.7
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  2. NM_001135022.2NP_001128494.1  ELMO domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001128494.1

    Status: REVIEWED

    Source sequence(s)
    AF258573, AK025630, BC010991, DA294897
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Related
    ENSP00000387139.3, ENST00000409013.8
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  3. NM_001135023.2NP_001128495.1  ELMO domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001128495.1

    Status: REVIEWED

    Source sequence(s)
    AF258573, AK025630, BC112324
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Related
    ENSP00000377434.4, ENST00000393852.8
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  4. NM_001329791.2NP_001316720.1  ELMO domain-containing protein 3 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC062037
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  5. NM_001329792.2NP_001316721.1  ELMO domain-containing protein 3 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC062037
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  6. NM_001329793.2NP_001316722.1  ELMO domain-containing protein 3 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC062037
    Consensus CDS
    CCDS46352.1
    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  7. NM_032213.5NP_115589.2  ELMO domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_115589.2

    Status: REVIEWED

    Source sequence(s)
    AC062037
    Consensus CDS
    CCDS1973.1
    Related
    ENSP00000318264.7, ENST00000315658.11

RNA

  1. NR_138131.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC062037
  2. NR_138132.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC062037
  3. NR_138133.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC062037
    Related
    ENST00000423095.7

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    85354769..85391748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445971.1XP_047301927.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  2. XM_047445972.1XP_047301928.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  3. XM_047445973.1XP_047301929.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Related
    ENSP00000386304.2, ENST00000409890.6
  4. XM_047445975.1XP_047301931.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  5. XM_047445974.1XP_047301930.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  6. XM_047445976.1XP_047301932.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
    Related
    ENST00000490508.5
  7. XM_047445966.1XP_047301922.1  ELMO domain-containing protein 3 isoform X1

  8. XM_047445967.1XP_047301923.1  ELMO domain-containing protein 3 isoform X1

  9. XM_047445965.1XP_047301921.1  ELMO domain-containing protein 3 isoform X1

  10. XM_047445968.1XP_047301924.1  ELMO domain-containing protein 3 isoform X1

  11. XM_024453169.2XP_024308937.1  ELMO domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    pfam04727
    Location:155308
    ELMO_CED12; ELMO/CED-12 family
  12. XM_024453170.2XP_024308938.1  ELMO domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    pfam04727
    Location:155308
    ELMO_CED12; ELMO/CED-12 family
  13. XM_047445963.1XP_047301919.1  ELMO domain-containing protein 3 isoform X1

  14. XM_047445964.1XP_047301920.1  ELMO domain-containing protein 3 isoform X1

  15. XM_047445969.1XP_047301925.1  ELMO domain-containing protein 3 isoform X1

  16. XM_024453171.2XP_024308939.1  ELMO domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    pfam04727
    Location:155308
    ELMO_CED12; ELMO/CED-12 family
  17. XM_047445977.1XP_047301933.1  ELMO domain-containing protein 3 isoform X2

    Related
    ENSP00000407599.3, ENST00000446464.7
  18. XM_047445978.1XP_047301934.1  ELMO domain-containing protein 3 isoform X2

    Related
    ENSP00000401984.2, ENST00000444108.7
  19. XM_047445979.1XP_047301935.1  ELMO domain-containing protein 3 isoform X3

    UniProtKB/TrEMBL
    B8ZZT8
    Related
    ENSP00000386257.2, ENST00000409331.6

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791763.1 Reference GRCh38.p14 PATCHES

    Range
    281007..283491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    85356760..85393759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344134.1XP_054200109.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  2. XM_054344135.1XP_054200110.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  3. XM_054344136.1XP_054200111.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  4. XM_054344138.1XP_054200113.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  5. XM_054344137.1XP_054200112.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  6. XM_054344139.1XP_054200114.1  ELMO domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZD6, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q96FG2, Q9H6Q8
  7. XM_054344129.1XP_054200104.1  ELMO domain-containing protein 3 isoform X1

  8. XM_054344131.1XP_054200106.1  ELMO domain-containing protein 3 isoform X1

  9. XM_054344128.1XP_054200103.1  ELMO domain-containing protein 3 isoform X1

  10. XM_054344132.1XP_054200107.1  ELMO domain-containing protein 3 isoform X1

  11. XM_054344127.1XP_054200102.1  ELMO domain-containing protein 3 isoform X1

  12. XM_054344125.1XP_054200100.1  ELMO domain-containing protein 3 isoform X1

  13. XM_054344130.1XP_054200105.1  ELMO domain-containing protein 3 isoform X1

  14. XM_054344123.1XP_054200098.1  ELMO domain-containing protein 3 isoform X1

  15. XM_054344124.1XP_054200099.1  ELMO domain-containing protein 3 isoform X1

  16. XM_054344133.1XP_054200108.1  ELMO domain-containing protein 3 isoform X1

  17. XM_054344126.1XP_054200101.1  ELMO domain-containing protein 3 isoform X1

  18. XM_054344140.1XP_054200115.1  ELMO domain-containing protein 3 isoform X2

  19. XM_054344141.1XP_054200116.1  ELMO domain-containing protein 3 isoform X2

  20. XM_054344142.1XP_054200117.1  ELMO domain-containing protein 3 isoform X3

    UniProtKB/TrEMBL
    B8ZZT8
  21. XM_054344143.1XP_054200118.1  ELMO domain-containing protein 3 isoform X3

    UniProtKB/TrEMBL
    B8ZZT8