MID1IP1

protein-coding

MID1 interacting protein 1

Gene summary

Predicted to enable enzyme activator activity. Predicted to be involved in several processes, including negative regulation of microtubule depolymerization; positive regulation of fatty acid biosynthetic process; and positive regulation of ligase activity. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_021242.6

Inheritance

—

ClinVar variants

U:17B:4

Top phenotype

Flexion contracture

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:38,801,440-38,806,537

External References & Databases

Ensembl (ENSG00000165175)

Transcript & Mutation Effects

hg38 • Region Span ~5.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MID1IP1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 16

not providedTotal: 4

Flexion contractureTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021242.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			17 clinvar		1 clinvar	18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	3	1	21

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021242.6	RefSeq	NP_067065.1	1	MANE Select
ENST00000614558.3	Ensembl	ENSP00000483547.1	1	MANE Select
NM_001098790.2	RefSeq	NP_001092260.1	1	Standard
NM_001098791.2	RefSeq	NP_001092261.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Import of palmitoyl-CoA into the mitochondrial matrix
Metabolism
Fatty acid metabolism

Biological Process

lipid metabolic process
carnitine shuttle
negative regulation of microtubule depolymerization
positive regulation of fatty acid biosynthetic process
regulation of lipid biosynthetic process

Molecular Function

protein binding
protein C-terminus binding
identical protein binding

Cellular Component

nucleus
cytosol
microtubule
microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000336949
Coding exons: 1
Length: 5106
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.235	67	72.6	0.922	0.00000477	1213
Missense (PolyPhen)		7	28.813	0.24295		495
Synonymous	-1.94	45	31.2	1.44	0.00000217	364
Loss of Function	1.51	0	2.65	0.00	1.69e-7	44

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

RVIS EVS: 0.1
RVIS percentile EVS: 61.28

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.883

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium