Format

Send to:

Choose Destination

DEF8 differentially expressed in FDCP 8 homolog [ Homo sapiens (human) ]

Gene ID: 54849, updated on 1-Jun-2020

Summary

Official Symbol
DEF8provided by HGNC
Official Full Name
differentially expressed in FDCP 8 homologprovided by HGNC
Primary source
HGNC:HGNC:25969
See related
Ensembl:ENSG00000140995
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
Expression
Ubiquitous expression in lymph node (RPKM 14.4), appendix (RPKM 9.2) and 25 other tissues See more
Orthologs

Genomic context

See DEF8 in Genome Data Viewer
Location:
16q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89948731..89968060)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90014560..90034468)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene melanocortin 1 receptor Neighboring gene tubulin beta 3 class III Neighboring gene small nucleolar RNA, H/ACA box 119 Neighboring gene CENPB DNA-binding domain containing 1 Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3926

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20186, MGC104349

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lysosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ruffle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
differentially expressed in FDCP 8 homolog
Names
DEF-8

NCBI Reference Sequences (RefSeq)

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_001242816.2NP_001229745.1  differentially expressed in FDCP 8 homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK055099, AK131370, AK225539, DC332872
    Consensus CDS
    CCDS58495.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000456799.1, ENST00000570182.5
    Conserved Domains (2) summary
    pfam13901
    Location:224424
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:129182
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  2. NM_001242817.2NP_001229746.1  differentially expressed in FDCP 8 homolog isoform 4

    See identical proteins and their annotated locations for NP_001229746.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the 5' UTR, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK055099, AK225539, AK296410, DC332872
    Consensus CDS
    CCDS58496.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000456095.1, ENST00000567874.5
    Conserved Domains (2) summary
    pfam13901
    Location:174374
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:79132
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  3. NM_001242818.2NP_001229747.1  differentially expressed in FDCP 8 homolog isoform 5

    See identical proteins and their annotated locations for NP_001229747.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, compared to variant 1. This difference causes translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 5) has a shorter N-terminus, compared to isoform 1. Variants 5 and 7 encode the same protein.
    Source sequence(s)
    AK055099, AK225539, DC332872
    Consensus CDS
    CCDS58493.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000458019.1, ENST00000563594.5
    Conserved Domains (2) summary
    pfam13901
    Location:234434
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  4. NM_001242819.1NP_001229748.1  differentially expressed in FDCP 8 homolog isoform 6

    See identical proteins and their annotated locations for NP_001229748.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has multiple differences in the 5' UTR and 3' coding region, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 6) has shorter N and C-termini , compared to isoform 1.
    Source sequence(s)
    AK055099, AK225539, AK295880, BC144038, DC332872
    Consensus CDS
    CCDS58494.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234417
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  5. NM_001242820.1NP_001229749.1  differentially expressed in FDCP 8 homolog isoform 5

    See identical proteins and their annotated locations for NP_001229749.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has multiple differences in the 5' UTR, compared to variant 1. This difference causes translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 5) has a shorter N-terminus, compared to isoform 1. Variants 5 and 7 encode the same protein.
    Source sequence(s)
    AC092143, AK055099, AK225539, AK295880, DC332872
    Consensus CDS
    CCDS58493.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000482524.1, ENST00000617948.4
    Conserved Domains (2) summary
    pfam13901
    Location:234434
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  6. NM_001242821.1NP_001229750.1  differentially expressed in FDCP 8 homolog isoform 2

    See identical proteins and their annotated locations for NP_001229750.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) has multiple differences in the 5' and 3' UTRs, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 2) has shorter N- and C-termini, compared to isoform 1. Variants 2, 8, and 9 encode the same protein.
    Source sequence(s)
    AK000193, BC105592, DC332872
    Consensus CDS
    CCDS45555.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000480073.1, ENST00000610455.4
  7. NM_001242822.2NP_001229751.1  differentially expressed in FDCP 8 homolog isoform 2

    See identical proteins and their annotated locations for NP_001229751.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) has multiple differences in the 5' and 3' UTRs, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 2) has shorter N- and C-termini, compared to isoform 1. Variants 2, 8, and 9 encode the same protein.
    Source sequence(s)
    BC015482, DC332872
    Consensus CDS
    CCDS45555.1
    UniProtKB/Swiss-Prot
    Q6ZN54
  8. NM_017702.4NP_060172.1  differentially expressed in FDCP 8 homolog isoform 2

    See identical proteins and their annotated locations for NP_060172.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the 5' and 3' UTRs, compared to variant 1. These differences cause translation initiation at an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform 2) has shorter N- and C-termini, compared to isoform 1. Variants 2, 8, and 9 encode the same protein.
    Source sequence(s)
    AK000193, DC332872
    Consensus CDS
    CCDS45555.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000412784.2, ENST00000418391.6
  9. NM_207514.3NP_997397.1  differentially expressed in FDCP 8 homolog isoform 1

    See identical proteins and their annotated locations for NP_997397.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC092143, AK055099, AK095051, AK225539, DC332872
    Consensus CDS
    CCDS10989.1
    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000268676.7, ENST00000268676.11
    Conserved Domains (2) summary
    pfam13901
    Location:295495
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:200253
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    89948731..89968060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023358.2XP_016878847.1  differentially expressed in FDCP 8 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234434
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  2. XM_017023359.2XP_016878848.1  differentially expressed in FDCP 8 homolog isoform X3

    Conserved Domains (2) summary
    pfam13901
    Location:234432
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  3. XM_017023360.2XP_016878849.1  differentially expressed in FDCP 8 homolog isoform X4

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234417
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  4. XM_011523157.3XP_011521459.1  differentially expressed in FDCP 8 homolog isoform X1

    See identical proteins and their annotated locations for XP_011521459.1

    Conserved Domains (2) summary
    pfam13901
    Location:234338
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  5. XM_017023365.1XP_016878854.1  differentially expressed in FDCP 8 homolog isoform X11

  6. XM_011523158.2XP_011521460.1  differentially expressed in FDCP 8 homolog isoform X3

    Conserved Domains (2) summary
    pfam13901
    Location:234432
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  7. XM_005256318.3XP_005256375.2  differentially expressed in FDCP 8 homolog isoform X4

    See identical proteins and their annotated locations for XP_005256375.2

    UniProtKB/Swiss-Prot
    Q6ZN54
    Related
    ENSP00000457627.1, ENST00000563795.1
    Conserved Domains (2) summary
    pfam13901
    Location:234417
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  8. XM_011523160.3XP_011521462.1  differentially expressed in FDCP 8 homolog isoform X6

    See identical proteins and their annotated locations for XP_011521462.1

    Conserved Domains (2) summary
    pfam13901
    Location:295399
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:200253
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  9. XM_011523156.3XP_011521458.1  differentially expressed in FDCP 8 homolog isoform X1

    See identical proteins and their annotated locations for XP_011521458.1

    Conserved Domains (2) summary
    pfam13901
    Location:234338
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  10. XM_017023361.2XP_016878850.1  differentially expressed in FDCP 8 homolog isoform X7

  11. XM_017023362.2XP_016878851.1  differentially expressed in FDCP 8 homolog isoform X8

  12. XM_017023364.2XP_016878853.1  differentially expressed in FDCP 8 homolog isoform X10

  13. XM_011523159.3XP_011521461.1  differentially expressed in FDCP 8 homolog isoform X5

    Conserved Domains (2) summary
    pfam13901
    Location:268372
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:173226
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  14. XM_017023363.1XP_016878852.1  differentially expressed in FDCP 8 homolog isoform X9

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:295495
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:200253
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  15. XM_017023367.2XP_016878856.1  differentially expressed in FDCP 8 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234434
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  16. XM_017023369.2XP_016878858.1  differentially expressed in FDCP 8 homolog isoform X4

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234417
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  17. XM_011523161.3XP_011521463.1  differentially expressed in FDCP 8 homolog isoform X6

    See identical proteins and their annotated locations for XP_011521463.1

    Conserved Domains (2) summary
    pfam13901
    Location:295399
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:200253
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  18. XM_011523162.3XP_011521464.1  differentially expressed in FDCP 8 homolog isoform X1

    See identical proteins and their annotated locations for XP_011521464.1

    Conserved Domains (2) summary
    pfam13901
    Location:234338
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  19. XM_017023366.2XP_016878855.1  differentially expressed in FDCP 8 homolog isoform X1

    Conserved Domains (2) summary
    pfam13901
    Location:234338
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
  20. XM_017023368.2XP_016878857.1  differentially expressed in FDCP 8 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q6ZN54
    Conserved Domains (2) summary
    pfam13901
    Location:234434
    zf-RING_9; Putative zinc-RING and/or ribbon
    cl00040
    Location:139192
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
Support Center