RIMKLA

protein-coding

ribosomal modification protein rimK like family member A

Gene summary

Predicted to enable N-acetyl-L-aspartate-L-glutamate ligase activity. Predicted to be involved in L-amino acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM80A

MANE transcript

NM_173642.4

Inheritance

—

ClinVar variants

U:36

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.54

Max pathogenic AF

—

Genomic locus

chr1:42,380,792-42,424,232

External References & Databases

Ensembl (ENSG00000177181)

Transcript & Mutation Effects

hg38 • Region Span ~43.4 kb

Loading mutation effect viewer...

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 RIMKLA variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 35

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173642.4. 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						0
missense			36 clinvar			36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	0	0	36

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173642.4	RefSeq	NP_775913.2	5	MANE Select
ENST00000431473.4	Ensembl	ENSP00000414330.2	5	MANE Select
ENST00000410070.6	Ensembl	ENSP00000387064.2	3	Standard
ENST00000910105.1	Ensembl	ENSP00000580164.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Alanine, aspartate and glutamate metabolism - Homo sapiens (human)
Metabolism of amino acids and derivatives
Metabolism
Amino acid synthesis and interconversion (transamination)

Biological Process

cellular protein modification process
cellular amino acid biosynthetic process

Molecular Function

ATP binding
metal ion binding
N-acetyl-L-aspartate-L-glutamate ligase activity

Cellular Component

cytoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000431473
Coding exons: 5
Length: 41784
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 125736
p: 0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.22	160	210	0.763	0.0000119	2544
Missense (PolyPhen)		47	72.25	0.65052		882
Synonymous	1.63	65	83.9	0.774	0.00000492	802
Loss of Function	1.53	7	12.9	0.541	7.33e-7	158

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.000034	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the synthesis of N-acetyl-L-aspartyl-L- glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate. {ECO:0000250|UniProtKB:Q6PFX8}.;

Recessive Scores

pRec: 0.120

Intolerance Scores

LoFtool: 0.207
RVIS EVS: -0.25
RVIS percentile EVS: 35.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.164

Gene Damage Prediction

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