MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPK8IP3provided by HGNC
Official Full Name: mitogen-activated protein kinase 8 interacting protein 3provided by HGNC
Primary source: HGNC:HGNC:6884
See related: Ensembl:ENSG00000138834 MIM:605431; AllianceGenome:HGNC:6884
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: syd; JIP3; SYD2; JIP-3; JSAP1; NEDBA
Summary: The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 22.4), spleen (RPKM 12.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1706195..1770351)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1722043..1786181)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1756196..1820352)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular mechanism of dynein-dynactin complex assembly by LIS1.
Title: Molecular mechanism of dynein-dynactin complex assembly by LIS1.
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Title: Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport.
Title: JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport.
JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton.
Title: JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton.
Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons.
Title: Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons.
Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
Title: Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
Structural characterization of the RH1-LZI tandem of JIP3/4 highlights RH1 domains as a cytoskeletal motor-binding motif.
Title: Structural characterization of the RH1-LZI tandem of JIP3/4 highlights RH1 domains as a cytoskeletal motor-binding motif.
MAPK8IP3 variants cause a neurodevelopmental disease which includes spastic diplegia, intellectual disability, cerebral atrophy and corpus callosum hypoplasia.
Title: Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
in HT1080 cells, a human fibrosarcoma cell line, a requirement for microtubules, dynein, the JIP3 microtubule motor scaffold protein, and Arf6, a JIP3 interacting protein, for the formation and inward movement of the macropinosome, is reported.
Title: Arf6, JIP3, and dynein shape and mediate macropinocytosis.
implication of de novo variants in MAPK8IP3 as a cause of a neurodevelopmental disorder with intellectual disability and variable brain anomalies
Title: De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MedGen: C5193102 OMIM: 618443 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64938 (e-PCR)
- UniSTS:25681

AB071076 (e-PCR)
- UniSTS:480250

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables JUN kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables MAP-kinase scaffold activity	IBA Inferred from Biological aspect of Ancestor more info
enables MAP-kinase scaffold activity	ISS Inferred from Sequence or Structural Similarity more info
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinesin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor complex adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in anterograde axonal protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon development	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cell body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: C-Jun-amino-terminal kinase-interacting protein 3

Names: C-jun-amino-terminal kinase interacting protein 3; JNK MAP kinase scaffold protein 3; JNK-interacting protein 3; JNK/SAPK-associated protein-1; JNK/stress-activated protein kinase-associated protein 1; homolog of Drosophila Sunday driver 2; stress-activated protein kinase-associated protein 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001040439.2 → NP_001035529.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AB028989, AC012180, AL031710, BC087861, BM791368, BY795428, CA776361, CN361410, CN405914, CN405915

Consensus CDS

CCDS45379.1

UniProtKB/TrEMBL

B7ZMF3, E9PFH7

Related

ENSP00000348290.5, ENST00000356010.9

Conserved Domains (5) summary

pfam05887
Location:843 → 965

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam07926
Location:61 → 167

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam15035
Location:441 → 554

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam16471
Location:410 → 478

JIP_LZII; JNK-interacting protein leucine zipper II
NM_001318852.2 → NP_001305781.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1 by a single amino acid.

Source sequence(s)

AC012180, AL031710, AL031717

Consensus CDS

CCDS81929.1

UniProtKB/TrEMBL

A0A087WYG2, B7ZMF3

Related

ENSP00000481780.1, ENST00000610761.2

Conserved Domains (5) summary

pfam05887
Location:850 → 972

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam07926
Location:61 → 167

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam15035
Location:448 → 561

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam16471
Location:417 → 485

JIP_LZII; JNK-interacting protein leucine zipper II
NM_015133.5 → NP_055948.2 C-Jun-amino-terminal kinase-interacting protein 3 isoform 1

See identical proteins and their annotated locations for NP_055948.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC012180, AI291346, BC137124, BQ706804, DA135446

Consensus CDS

CCDS10442.2

UniProtKB/Swiss-Prot

A2A2B3, A7E2B3, Q96RY4, Q9H4I4, Q9H7P1, Q9NUG0, Q9UPT6

UniProtKB/TrEMBL

B7ZMF3

Related

ENSP00000250894.4, ENST00000250894.8

Conserved Domains (4) summary

pfam05887
Location:849 → 971

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam16471
Location:416 → 484

JIP_LZII; JNK-interacting protein leucine zipper II

cl25732
Location:427 → 553

SMC_N; RecF/RecN/SMC N terminal domain

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

1706195..1770351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522429.3 → XP_011520731.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X1

UniProtKB/TrEMBL

A0A669KB35

Related

ENSP00000501096.1, ENST00000673691.1

Conserved Domains (5) summary

pfam05887
Location:858 → 980

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam07926
Location:61 → 167

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam15035
Location:456 → 569

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam16471
Location:425 → 493

JIP_LZII; JNK-interacting protein leucine zipper II
XM_047433812.1 → XP_047289768.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X3
XM_011522430.3 → XP_011520732.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X2

UniProtKB/TrEMBL

A0A669KB35

Conserved Domains (5) summary

pfam05887
Location:852 → 974

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam07926
Location:61 → 167

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam15035
Location:450 → 563

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam16471
Location:419 → 487

JIP_LZII; JNK-interacting protein leucine zipper II
XM_047433813.1 → XP_047289769.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X4
XM_005255190.3 → XP_005255247.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X5

UniProtKB/TrEMBL

B7ZMF3

Conserved Domains (5) summary

pfam05887
Location:835 → 957

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam07926
Location:61 → 167

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

pfam09744
Location:30 → 183

Jnk-SapK_ap_N; JNK_SAPK-associated protein-1

pfam16471
Location:411 → 479

JIP_LZII; JNK-interacting protein leucine zipper II

cl21478
Location:457 → 507

ATP-synt_B; ATP synthase B/B' CF(0)
XM_047433814.1 → XP_047289770.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X6
XM_047433815.1 → XP_047289771.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X7
XM_047433816.1 → XP_047289772.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X8
XM_047433817.1 → XP_047289773.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X9

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

1722043..1786181

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379864.1 → XP_054235839.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X1
XM_054379866.1 → XP_054235841.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X3
XM_054379865.1 → XP_054235840.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X2
XM_054379867.1 → XP_054235842.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X4
XM_054379868.1 → XP_054235843.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X5
XM_054379869.1 → XP_054235844.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X6
XM_054379870.1 → XP_054235845.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X7
XM_054379871.1 → XP_054235846.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform X8