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FGD4 FYVE, RhoGEF and PH domain containing 4 [ Homo sapiens (human) ]

Gene ID: 121512, updated on 6-Aug-2017
Official Symbol
FGD4provided by HGNC
Official Full Name
FYVE, RhoGEF and PH domain containing 4provided by HGNC
Primary source
HGNC:HGNC:19125
See related
Ensembl:ENSG00000139132 MIM:611104; Vega:OTTHUMG00000137374
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
CMT4H; FRABP; ZFYVE6
Summary
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Orthologs
Location:
12p11.21
Exon count:
25
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (32399523..32646050)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32552518..32798984)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984473 Neighboring gene BICD cargo adaptor 1 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like Neighboring gene tyrosyl-tRNA synthetase 2 Neighboring gene plakophilin 2 Neighboring gene ribosomal protein L35a pseudogene 27

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
    Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
  • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
    NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
    p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ34370, FLJ42663, MGC57222, DKFZp313E1818, DKFZp434K1572

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
filopodium IEA
Inferred from Electronic Annotation
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
ruffle ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
FYVE, RhoGEF and PH domain-containing protein 4
Names
FGD1 family, member 4
FGD1-related F-actin-binding protein
actin-filament binding protein frabin
zinc finger FYVE domain-containing protein 6

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_008626.2 RefSeqGene

    Range
    91444..251522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_240

mRNA and Protein(s)

  1. NM_001304480.1NP_001291409.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC084824, AC090440, AK057294, AK303334, AL832064, DA657803
    Consensus CDS
    CCDS76545.1
    UniProtKB/Swiss-Prot
    Q96M96
    UniProtKB/TrEMBL
    B7Z8F9, E9PJX4
    Related
    ENSP00000433666.1, OTTHUMP00000233838, ENST00000525053.5, OTTHUMT00000390888
    Conserved Domains (5) summary
    cd13236
    Location:749851
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:535628
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:666730
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:535632
    PH; PH domain
    pfam00621
    Location:322503
    RhoGEF; RhoGEF domain
  2. NM_001304481.1NP_001291410.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001291410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC084824, AC090440, AK297025, AL832064
    Consensus CDS
    CCDS76544.1
    UniProtKB/TrEMBL
    B7Z493
    Related
    ENSP00000431323.1, OTTHUMP00000233837, ENST00000531134.5, OTTHUMT00000390887
    Conserved Domains (5) summary
    cd13236
    Location:722824
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:508601
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:639703
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:508605
    PH; PH domain
    pfam00621
    Location:295476
    RhoGEF; RhoGEF domain
  3. NM_001304483.1NP_001291412.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 4

    See identical proteins and their annotated locations for NP_001291412.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has alternate 5' and 3' terminal sequences and an additional internal exon, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL832064, BC045552, BC096746, BI756188
    UniProtKB/TrEMBL
    Q49A55
    Conserved Domains (5) summary
    cd15791
    Location:175268
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:306370
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:175272
    PH; PH domain
    pfam00621
    Location:2143
    RhoGEF; RhoGEF domain
    cl17171
    Location:389440
    PH-like; Pleckstrin homology-like domain
  4. NM_001304484.1NP_001291413.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is the longest transcript, but encodes the shortest isoform. It has multiple differences in the 5' region, compared to variant 1. The resulting isoform (5) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC084824, AC090440, AK303334, AL832064, BC039708, BC096746
    UniProtKB/TrEMBL
    B7Z8F9
    Conserved Domains (5) summary
    cd13236
    Location:293395
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:79172
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:210274
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:79176
    PH; PH domain
    cl02571
    Location:147
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  5. NM_001330373.1NP_001317302.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (6) has a shorter N-terminus, compared to to isoform 1. Variants 6 and 7 encode the same isoform (6)
    Source sequence(s)
    AC084824, AC090440, AK057294, AL832064, BC039708, BC096746, BI752085
    Consensus CDS
    CCDS81679.1
    UniProtKB/Swiss-Prot
    Q96M96
    UniProtKB/TrEMBL
    F8W1R0
    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  6. NM_001330374.1NP_001317303.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (6) has a shorter N-terminus, compared to to isoform 1. Variants 6 and 7 encode the same isoform (6).
    Source sequence(s)
    AC084824, AC090440, AK057294, AK297025, AL832064, BC039708, BC096746, BI752085
    Consensus CDS
    CCDS81679.1
    UniProtKB/Swiss-Prot
    Q96M96
    UniProtKB/TrEMBL
    B7Z493, F8W1R0
    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  7. NM_139241.3NP_640334.2  FYVE, RhoGEF and PH domain-containing protein 4 isoform 3

    See identical proteins and their annotated locations for NP_640334.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' terminal exon, which results in a different 5' UTR and translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC084824, AC090440, AK057294, AL832064, BC039708, BC096746
    Consensus CDS
    CCDS8727.1
    UniProtKB/Swiss-Prot
    Q96M96
    Related
    ENSP00000394487.2, OTTHUMP00000174413, ENST00000427716.6, OTTHUMT00000268017
    Conserved Domains (5) summary
    cd13236
    Location:637739
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:423516
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:554618
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:423520
    PH; PH domain
    pfam00621
    Location:210391
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    32399523..32646050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253304.4XP_005253361.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

    Related
    ENSP00000449273.1, OTTHUMP00000241155, ENST00000534526.6, OTTHUMT00000404118
    Conserved Domains (5) summary
    cd13236
    Location:801903
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:587680
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:718782
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:587684
    PH; PH domain
    pfam00621
    Location:374555
    RhoGEF; RhoGEF domain
  2. XM_017018803.1XP_016874292.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

  3. XM_005253309.1XP_005253366.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

    See identical proteins and their annotated locations for XP_005253366.1

    UniProtKB/TrEMBL
    F8W1R0
    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  4. XM_017018804.1XP_016874293.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  5. XM_005253307.3XP_005253364.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

    Related
    ENSP00000446695.1, OTTHUMP00000241157, ENST00000546442.5, OTTHUMT00000404121
    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  6. XM_011520556.1XP_011518858.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    See identical proteins and their annotated locations for XP_011518858.1

    UniProtKB/Swiss-Prot
    Q96M96
    Conserved Domains (5) summary
    cd13236
    Location:637739
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:423516
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:554618
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:423520
    PH; PH domain
    pfam00621
    Location:210391
    RhoGEF; RhoGEF domain
  7. XM_017018805.1XP_016874294.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

    Conserved Domains (5) summary
    cd13236
    Location:453555
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:239332
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:370434
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:239336
    PH; PH domain
    pfam00621
    Location:26207
    RhoGEF; RhoGEF domain
  8. XM_011520554.1XP_011518856.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

    Conserved Domains (5) summary
    cd13236
    Location:735837
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:521614
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:652716
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:521618
    PH; PH domain
    pfam00621
    Location:308489
    RhoGEF; RhoGEF domain
  9. XM_005253308.4XP_005253365.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

    See identical proteins and their annotated locations for XP_005253365.1

    UniProtKB/TrEMBL
    F8W1R0
    Conserved Domains (5) summary
    cd13236
    Location:544646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:330427
    PH; PH domain
    pfam00621
    Location:117298
    RhoGEF; RhoGEF domain
  10. XM_011520557.1XP_011518859.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

    Conserved Domains (5) summary
    cd13236
    Location:453555
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:239332
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:370434
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:239336
    PH; PH domain
    pfam00621
    Location:26207
    RhoGEF; RhoGEF domain
  11. XM_011520555.1XP_011518857.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    See identical proteins and their annotated locations for XP_011518857.1

    UniProtKB/Swiss-Prot
    Q96M96
    Conserved Domains (5) summary
    cd13236
    Location:637739
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:423516
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:554618
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:423520
    PH; PH domain
    pfam00621
    Location:210391
    RhoGEF; RhoGEF domain
  12. XM_011520558.2XP_011518860.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X7

    Conserved Domains (5) summary
    cd13236
    Location:438540
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:224317
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:355419
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:224321
    PH; PH domain
    pfam00621
    Location:11192
    RhoGEF; RhoGEF domain
  13. XM_011520559.2XP_011518861.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X9

    Conserved Domains (5) summary
    cd13236
    Location:382484
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:168261
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:299363
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:168265
    PH; PH domain
    pfam00621
    Location:21136
    RhoGEF; RhoGEF domain
  14. XM_005253310.3XP_005253367.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X8

    Conserved Domains (5) summary
    cd13236
    Location:389491
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:175268
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:306370
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:175272
    PH; PH domain
    pfam00621
    Location:2143
    RhoGEF; RhoGEF domain

RNA

  1. XR_001748576.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    32605553..32765483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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