JPT1 Jupiter microtubule associated homolog 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JPT1provided by HGNC
Official Full Name: Jupiter microtubule associated homolog 1provided by HGNC
Primary source: HGNC:HGNC:14569
See related: Ensembl:ENSG00000189159 MIM:619242; AllianceGenome:HGNC:14569
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: HN1; ARM2; HN1A
Summary: Located in cytosol; intercellular bridge; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 36.4), colon (RPKM 19.4) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75135243..75154512, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76026703..76045989, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73131338..73150607, complement)

Chromosome 17 - NC_000017.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of hematological and neurological expressed 1 (HN1) in human cancers.
Title: Role of hematological and neurological expressed 1 (HN1) in human cancers.
Hematological and neurological expressed 1 (HN1) activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of c-Myc in hepatocellular carcinoma.
Title: Hematological and neurological expressed 1 (HN1) activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of c-Myc in hepatocellular carcinoma.
Thirdhand Smoke May Promote Lung Adenocarcinoma Development through HN1.
Title: Thirdhand Smoke May Promote Lung Adenocarcinoma Development through HN1.
LncRNA HOXA11-AS promotes cell growth by sponging miR-24-3p to regulate JPT1 in prostate cancer.
Title: LncRNA HOXA11-AS promotes cell growth by sponging miR-24-3p to regulate JPT1 in prostate cancer.
Jupiter microtubule-associated homolog 1 (JPT1): A predictive and pharmacodynamic biomarker of metformin response in endometrial cancers.
Title: Jupiter microtubule-associated homolog 1 (JPT1): A predictive and pharmacodynamic biomarker of metformin response in endometrial cancers.
HN1 as a diagnostic and prognostic biomarker for liver cancer.
Title: HN1 as a diagnostic and prognostic biomarker for liver cancer.
HN1 promotes tumor associated lymphangiogenesis and lymph node metastasis via NF-kappaB signaling activation in cervical carcinoma.
Title: HN1 promotes tumor associated lymphangiogenesis and lymph node metastasis via NF-κB signaling activation in cervical carcinoma.
HNRNPA1-mediated alternative polyadenylation of HN1 contributes to cancer- and senescence-related phenotypes.
Title: HNRNPA1-mediated 3' UTR length changes of HN1 contributes to cancer- and senescence-associated phenotypes.
Downregulation of MYC abrogated the effect of HN1 overexpression in breast cancer cell lines. Taken together, these data reveal that HN1 promotes the progression of breast cancer by upregulating MYC expression, and might be a therapeutic target for breast cancer.
Title: HN1 contributes to migration, invasion, and tumorigenesis of breast cancer by enhancing MYC activity.
Data report that HN1 is an essential factor for beta-catenin turnover and signaling, augments cell growth and migration in prostate cancer cells.
Title: HN1 negatively influences the β-catenin/E-cadherin interaction, and contributes to migration in prostate cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

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

RH12691 (e-PCR)
- UniSTS:21321

RH36500 (e-PCR)
- UniSTS:26988

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: jupiter microtubule associated homolog 1

Names: androgen-regulated protein 2; hematological and neurological expressed 1 protein

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_001002032.3 → NP_001002032.1 jupiter microtubule associated homolog 1 isoform 2

See identical proteins and their annotated locations for NP_001002032.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the longest isoform (2).

Source sequence(s)

AF086910, AY322169

Consensus CDS

CCDS32729.1

UniProtKB/Swiss-Prot

Q9UK76

Related

ENSP00000348316.4, ENST00000356033.8

Conserved Domains (1) summary

pfam17054
Location:1 → 58

JUPITER; Microtubule-Associated protein Jupiter
NM_001002033.3 → NP_001002033.1 jupiter microtubule associated homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001002033.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple coding region differences, one of which results in a frameshift and an early stop codon, compared to variant 2. Variants 3, 5 and 6 encode the same isoform (3), which is shorter and has distinct N- and C-termini, compared to isoform 2.

Source sequence(s)

AF086910, AY322170

Consensus CDS

CCDS45772.1

UniProtKB/Swiss-Prot

Q9UK76
NM_001288609.1 → NP_001275538.1 jupiter microtubule associated homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001275538.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and contains multiple coding region differences, one of which results in a frameshift and an early stop codon, compared to variant 2. Variants 3, 5 and 6 encode the same isoform (3), which is shorter and has distinct N- and C-termini, compared to isoform 2.

Source sequence(s)

AF086910, AW675726, BC039343, DB451153

Consensus CDS

CCDS45772.1

UniProtKB/Swiss-Prot

Q9UK76

Related

ENSP00000464266.1, ENST00000476258.5
NM_001288610.1 → NP_001275539.1 jupiter microtubule associated homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001275539.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and contains multiple coding region differences, one of which results in a frameshift and an early stop codon, compared to variant 2. Variants 3, 5 and 6 encode the same isoform (3), which is shorter and has distinct N- and C-termini, compared to isoform 2.

Source sequence(s)

AF086910, AK308253, AW675726

Consensus CDS

CCDS45772.1

UniProtKB/Swiss-Prot

Q9UK76

Related

ENSP00000462834.1, ENST00000482348.5
NM_001288611.2 → NP_001275540.1 jupiter microtubule associated homolog 1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 2. It encodes isoform 4, which is shorter and has a distinct C-terminus, compared to isoform 2.

Source sequence(s)

AC022211, AF086910, BG779109

UniProtKB/TrEMBL

J3KT51

Conserved Domains (1) summary

pfam17054
Location:1 → 58

JUPITER; Microtubule-Associated protein Jupiter
NM_016185.4 → NP_057269.1 jupiter microtubule associated homolog 1 isoform 1

See identical proteins and their annotated locations for NP_057269.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) contains an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 2. It encodes isoform 1, which is shorter and has a distinct C-terminus, compared to isoform 2.

Source sequence(s)

AF266846, AW675726

Consensus CDS

CCDS45771.1

UniProtKB/Swiss-Prot

B2R6K3, Q53FG7, Q7Z2D2, Q7Z2F0, Q9UK76

Related

ENSP00000387059.3, ENST00000409753.8

Conserved Domains (1) summary

pfam17054
Location:1 → 58

JUPITER; Microtubule-Associated protein Jupiter

RNA

NR_109933.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate splice site in an internal exon and contains an alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF086910, DA604735