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DENND4C DENN domain containing 4C [ Homo sapiens (human) ]

Gene ID: 55667, updated on 10-Mar-2024

Summary

Official Symbol
DENND4Cprovided by HGNC
Official Full Name
DENN domain containing 4Cprovided by HGNC
Primary source
HGNC:HGNC:26079
See related
Ensembl:ENSG00000137145 AllianceGenome:HGNC:26079
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
C9orf55; C9orf55B; RAB10GEF; bA513M16.3
Summary
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in cellular response to insulin stimulus; protein localization to plasma membrane; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 11.5), skin (RPKM 11.0) and 25 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

Location:
9p22.1
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19230513..19374281)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19243303..19387084)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19230511..19374279)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12241 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19126736-19127246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19127247-19127756 Neighboring gene perilipin 2 Neighboring gene CRISPRi-validated cis-regulatory element chr9.246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19186502-19187002 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19202444-19202962 Neighboring gene ribosomal protein S6 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19230483-19230989 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19230990-19231495 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:19233697-19233870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19250753-19251617 Neighboring gene uncharacterized LOC124902350 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:19379549-19380748 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3 Neighboring gene ribosomal protein S6

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

  • FLJ20686, DKFZp686I09113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in cellular response to insulin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in insulin-responsive compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of retromer complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
DENN domain-containing protein 4C
Names
DENN/MADD domain containing 4A pseudogene
DENN/MADD domain containing 4C

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.

mRNA and Protein(s)

  1. NM_001330640.2NP_001317569.1  DENN domain-containing protein 4C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Consensus CDS
    CCDS83349.1
    UniProtKB/Swiss-Prot
    Q5VZ89
    Related
    ENSP00000473469.1, ENST00000434457.7
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  2. NM_001386026.2NP_001372955.1  DENN domain-containing protein 4C isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  3. NM_001386030.1NP_001372959.1  DENN domain-containing protein 4C isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:524597
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:785814
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309457
    DENN; DENN (AEX-3) domain
  4. NM_001386031.1NP_001372960.1  DENN domain-containing protein 4C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (1) summary
    sd00004
    Location:255284
    PPR; PPR repeat [structural motif]
  5. NM_001386032.1NP_001372961.1  DENN domain-containing protein 4C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (2) summary
    smart00801
    Location:57130
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:318347
    PPR; PPR repeat [structural motif]
  6. NM_001386034.1NP_001372963.1  DENN domain-containing protein 4C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (2) summary
    smart00801
    Location:57130
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:318347
    PPR; PPR repeat [structural motif]
  7. NM_001386035.1NP_001372964.1  DENN domain-containing protein 4C isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (3) summary
    smart00801
    Location:207280
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:468497
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:1140
    DENN; DENN (AEX-3) domain
  8. NM_001386036.1NP_001372965.1  DENN domain-containing protein 4C isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (2) summary
    smart00801
    Location:165238
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:426455
    PPR; PPR repeat [structural motif]
  9. NM_001386037.1NP_001372966.1  DENN domain-containing protein 4C isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:752780
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  10. NM_001386038.1NP_001372967.1  DENN domain-containing protein 4C isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  11. NM_001386039.1NP_001372968.1  DENN domain-containing protein 4C isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (2) summary
    smart00801
    Location:57130
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:318347
    PPR; PPR repeat [structural motif]
  12. NM_001386040.1NP_001372969.1  DENN domain-containing protein 4C isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  13. NM_001386041.1NP_001372970.1  DENN domain-containing protein 4C isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:752780
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  14. NM_001386042.1NP_001372971.1  DENN domain-containing protein 4C isoform 15

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  15. NM_001386043.1NP_001372972.1  DENN domain-containing protein 4C isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:323396
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:584613
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:73256
    DENN; DENN (AEX-3) domain
    cl04085
    Location:140
    uDENN; uDENN domain
  16. NM_001386044.1NP_001372973.1  DENN domain-containing protein 4C isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:323396
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:584613
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:73256
    DENN; DENN (AEX-3) domain
    cl04085
    Location:140
    uDENN; uDENN domain
  17. NM_001386045.1NP_001372974.1  DENN domain-containing protein 4C isoform 16

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  18. NM_001386046.1NP_001372975.1  DENN domain-containing protein 4C isoform 17

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:752780
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  19. NM_001386047.1NP_001372976.1  DENN domain-containing protein 4C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Consensus CDS
    CCDS83349.1
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
  20. NM_001386048.1NP_001372977.1  DENN domain-containing protein 4C isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
    Conserved Domains (4) summary
    smart00801
    Location:323396
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:584613
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:73256
    DENN; DENN (AEX-3) domain
    cl04085
    Location:140
    uDENN; uDENN domain
  21. NM_017925.7NP_060395.5  DENN domain-containing protein 4C isoform 1

    See identical proteins and their annotated locations for NP_060395.5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AK125842, AL161909, AL391834, AW271839, CN427691, DA517991, DV080472, HY106197
    Consensus CDS
    CCDS6491.3
    UniProtKB/Swiss-Prot
    A2A3R1, A2A3R2, A2A3R3, A2A3R9, Q5VZ89, Q6AI48, Q6ZUB3, Q8NCY7, Q9H6N4, Q9NUT1, Q9NWA5, Q9NWT3, R4GN35, R4GNB2
    Related
    ENSP00000473565.1, ENST00000602925.5
    Conserved Domains (4) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:310492
    DENN; DENN (AEX-3) domain

RNA

  1. NR_073201.4 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons, and includes two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL161909, AL391834, AW271839, BC144485, DA517991, DV080472, HY106197
  2. NR_169842.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  3. NR_169843.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  4. NR_169844.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  5. NR_169845.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  6. NR_169846.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  7. NR_169847.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  8. NR_169848.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  9. NR_169849.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  10. NR_169850.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  11. NR_169851.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  12. NR_169852.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  13. NR_169853.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834
  14. NR_169854.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL161909, AL391834

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    19230513..19374281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423585.1XP_047279541.1  DENN domain-containing protein 4C isoform X2

  2. XM_047423584.1XP_047279540.1  DENN domain-containing protein 4C isoform X1

    UniProtKB/Swiss-Prot
    A2A3R1, A2A3R2, A2A3R3, A2A3R9, Q5VZ89, Q6AI48, Q6ZUB3, Q8NCY7, Q9H6N4, Q9NUT1, Q9NWA5, Q9NWT3, R4GN35, R4GNB2
  3. XM_047423586.1XP_047279542.1  DENN domain-containing protein 4C isoform X3

  4. XM_011517959.4XP_011516261.1  DENN domain-containing protein 4C isoform X4

    Conserved Domains (5) summary
    smart00801
    Location:559632
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:192276
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:820849
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:309492
    DENN; DENN (AEX-3) domain
    pfam13041
    Location:819858
    PPR_2; PPR repeat family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    19243303..19387084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363271.1XP_054219246.1  DENN domain-containing protein 4C isoform X2

  2. XM_054363270.1XP_054219245.1  DENN domain-containing protein 4C isoform X1

    UniProtKB/Swiss-Prot
    A2A3R1, A2A3R2, A2A3R3, A2A3R9, Q5VZ89, Q6AI48, Q6ZUB3, Q8NCY7, Q9H6N4, Q9NUT1, Q9NWA5, Q9NWT3, R4GN35, R4GNB2
  3. XM_054363272.1XP_054219247.1  DENN domain-containing protein 4C isoform X3

  4. XM_054363273.1XP_054219248.1  DENN domain-containing protein 4C isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_023879.1: Suppressed sequence

    Description
    NG_023879.1: This RefSeq was suppressed because review of this locus determined that it is not a non-transcribed pseudogene; it represents a region of the DENND4C (GeneID: 55667) gene.