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  2. LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

Homo sapiens

Also known as ALAZS; PIP7S; hLARP7; HDCMA18P

Gene ID: 51574 | Gene type: protein coding

About LARP7

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:112,637,143-112,657,586 (from NCBI)

This gene has 39 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 17.7), thyroid (RPKM 16.5) and 25 other tissues.

Summary

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LARP7 Products(12)

mRNA Protein Name
NM_001267039.4 NP_001253968.2 la-related protein 7 isoform 1
NM_001370974.1 NP_001357903.1 la-related protein 7 isoform 3
NM_001370975.1 NP_001357904.1 la-related protein 7 isoform 3
NM_001370976.1 NP_001357905.1 la-related protein 7 isoform 4
NM_001370977.1 NP_001357906.1 la-related protein 7 isoform 4
NM_001370978.1 NP_001357907.1 la-related protein 7 isoform 1
NM_001370979.1 NP_001357908.1 la-related protein 7 isoform 5
NM_001370980.1 NP_001357909.1 la-related protein 7 isoform 5
NM_001370981.1 NP_001357910.1 la-related protein 7 isoform 6
NM_001370982.1 NP_001357911.1 la-related protein 7 isoform 6
NM_015454.3 NP_056269.1 la-related protein 7 isoform 1
NM_016648.4 NP_057732.2 la-related protein 7 isoform 1

LARP7 Protein Structure

La

La: La domain (38 - 97)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 188)

RRM_3

RRM_3: RNA binding motif (454 - 552)

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  • 582 a.a.
Protein Preferred Names Protein Names

la-related protein 7

La ribonucleoprotein domain family member 7

Related Diseases

Diseases Alias
Alazami Syndrome

Microcephalic Primordial Dwarfism, Alazami Type

ALAZS

Facial Dysmorphism, Intellectual Disability, And Primordial Dwarfism

Facial Dysmorphism Intellectual Disability And Primordial Dwarfism

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Coffin-Siris Syndrome 9

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris LARP7 VGNC VGNC:42591
Rattus norvegicus LARP7 RGD RGD:1592474
Felis catus LARP7 VGNC VGNC:63196
Macaca mulatta LARP7 VGNC VGNC:74118
Mus musculus LARP7 MGD MGI:107634
Bos taurus LARP7 VGNC VGNC:30794